CTR9 (CTR9 homolog, Paf1/RNA polymerase II complex component) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: CTR9 (CTR9 homolog, Paf1/RNA polymerase II complex component) Homo sapiens
Analyze
Symbol: CTR9
Name: CTR9 homolog, Paf1/RNA polymerase II complex component
RGD ID: 1322372
HGNC Page HGNC:16850
Description: Predicted to enable RNA polymerase II complex binding activity. Involved in several processes, including negative regulation of myeloid cell differentiation; positive regulation of transcription by RNA polymerase II; and transcription elongation by RNA polymerase II. Located in nucleoplasm. Part of Cdc73/Paf1 complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Ctr9, Paf1/RNA polymerase II complex component, homolog; KIAA0155; p150; p150TSP; RNA polymerase-associated protein CTR9 homolog; SH2 domain binding protein 1 (tetratricopeptide repeat containing); SH2 domain-binding protein 1; SH2BP1; TPR-containing, SH2-binding phosphoprotein; TSBP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381110,751,246 - 10,779,746 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1110,751,018 - 10,801,625 (+)EnsemblGRCh38hg38GRCh38
GRCh371110,772,793 - 10,801,293 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361110,729,387 - 10,757,866 (+)NCBINCBI36Build 36hg18NCBI36
Build 341110,729,386 - 10,757,870NCBI
Celera1110,894,387 - 10,922,894 (+)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef1110,445,613 - 10,474,231 (+)NCBIHuRef
CHM1_11110,771,734 - 10,800,209 (+)NCBICHM1_1
T2T-CHM13v2.01110,836,160 - 10,864,657 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
Cdc73/Paf1 complex  (IBA,IDA,IEA)
euchromatin  (IEA,ISO,ISS)
nuclear speck  (IEA)
nucleoplasm  (IDA,TAS)
nucleus  (IEA)
protein-containing complex  (IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Hypertelorism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The Paf1 complex: platform or player in RNA polymerase II transcription? Jaehning JA Biochim Biophys Acta. 2010 May-Jun;1799(5-6):379-88. doi: 10.1016/j.bbagrm.2010.01.001. Epub 2010 Jan 12.
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8590280   PMID:8636124   PMID:12421765   PMID:12477932   PMID:15231748   PMID:15302935   PMID:15342556   PMID:15489334   PMID:15632063   PMID:15923622   PMID:16024656   PMID:16307923  
PMID:16964243   PMID:17081983   PMID:17911113   PMID:18469135   PMID:18551993   PMID:19136632   PMID:19345177   PMID:19410543   PMID:19575011   PMID:20178742   PMID:20305087   PMID:20541477  
PMID:21406692   PMID:21726809   PMID:21873635   PMID:22082156   PMID:22405323   PMID:22451921   PMID:22532828   PMID:22658674   PMID:22863883   PMID:22939629   PMID:23593388   PMID:23667531  
PMID:23891004   PMID:24163370   PMID:24360965   PMID:24981860   PMID:25099282   PMID:25544563   PMID:25921289   PMID:25933433   PMID:25969425   PMID:26030138   PMID:26048990   PMID:26186194  
PMID:26344197   PMID:26494790   PMID:26496610   PMID:26673895   PMID:26687678   PMID:26902284   PMID:27173435   PMID:27342126   PMID:27829357   PMID:27880917   PMID:28077445   PMID:28481362  
PMID:28514442   PMID:28515276   PMID:28675297   PMID:28977666   PMID:29292210   PMID:29298432   PMID:29467282   PMID:29509190   PMID:29568061   PMID:29774127   PMID:29795372   PMID:29845934  
PMID:29884807   PMID:30228257   PMID:30463901   PMID:30804502   PMID:30884312   PMID:30948266   PMID:31006538   PMID:31076518   PMID:31091453   PMID:31253590   PMID:31527615   PMID:31586073  
PMID:31980649   PMID:32416067   PMID:32513696   PMID:32694731   PMID:32707033   PMID:32780723   PMID:32786267   PMID:33239621   PMID:33298525   PMID:33306668   PMID:33567268   PMID:33640491  
PMID:33742100   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34108663   PMID:34189442   PMID:34244565   PMID:34349018   PMID:34369006   PMID:34373451   PMID:34831298   PMID:34876700  
PMID:34901782   PMID:35013556   PMID:35016493   PMID:35137163   PMID:35241646   PMID:35271311   PMID:35439318   PMID:35499524   PMID:35509820   PMID:35575683   PMID:35831314   PMID:35914814  
PMID:35938192   PMID:35944360   PMID:36215168   PMID:36217030   PMID:36383652   PMID:36424410   PMID:36490346   PMID:36537216   PMID:36736316   PMID:37038329   PMID:37059091   PMID:37071664  
PMID:37696373   PMID:37827155   PMID:38113892   PMID:38218188   PMID:38580884  


Genomics

Comparative Map Data
CTR9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381110,751,246 - 10,779,746 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1110,751,018 - 10,801,625 (+)EnsemblGRCh38hg38GRCh38
GRCh371110,772,793 - 10,801,293 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361110,729,387 - 10,757,866 (+)NCBINCBI36Build 36hg18NCBI36
Build 341110,729,386 - 10,757,870NCBI
Celera1110,894,387 - 10,922,894 (+)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef1110,445,613 - 10,474,231 (+)NCBIHuRef
CHM1_11110,771,734 - 10,800,209 (+)NCBICHM1_1
T2T-CHM13v2.01110,836,160 - 10,864,657 (+)NCBIT2T-CHM13v2.0
Ctr9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397110,628,158 - 110,655,584 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7110,628,158 - 110,655,584 (+)EnsemblGRCm39 Ensembl
GRCm387111,028,951 - 111,056,377 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7111,028,951 - 111,056,377 (+)EnsemblGRCm38mm10GRCm38
MGSCv377118,172,465 - 118,199,891 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367110,820,202 - 110,847,517 (+)NCBIMGSCv36mm8
Celera7111,006,421 - 111,033,848 (+)NCBICelera
Cytogenetic Map7E3NCBI
cM Map757.98NCBI
Ctr9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81174,571,952 - 174,601,974 (+)NCBIGRCr8
mRatBN7.21165,137,277 - 165,167,303 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1165,137,215 - 165,167,303 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1173,474,638 - 173,504,667 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01180,660,665 - 180,690,694 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01173,344,912 - 173,374,948 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01175,839,140 - 175,869,167 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1175,839,108 - 175,869,165 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01182,823,942 - 182,853,969 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41168,784,355 - 168,814,971 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11168,894,827 - 168,925,627 (+)NCBI
Celera1163,025,762 - 163,055,778 (+)NCBICelera
Cytogenetic Map1q33NCBI
Ctr9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541426,347,508 - 26,373,785 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541426,347,508 - 26,373,726 (+)NCBIChiLan1.0ChiLan1.0
CTR9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2913,172,118 - 13,221,502 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11113,134,486 - 13,183,874 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01110,884,353 - 10,913,246 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11110,610,892 - 10,639,808 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1110,610,892 - 10,639,808 (+)Ensemblpanpan1.1panPan2
CTR9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12133,915,804 - 33,949,597 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2133,915,772 - 33,949,103 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2133,480,521 - 33,514,331 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02134,792,714 - 34,826,492 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2134,792,706 - 34,826,494 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12134,052,853 - 34,086,742 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02134,224,190 - 34,258,155 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02134,516,004 - 34,549,782 (+)NCBIUU_Cfam_GSD_1.0
Ctr9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494751,551,954 - 51,579,000 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365287,585,787 - 7,613,047 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365287,585,937 - 7,613,022 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CTR9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl248,700,974 - 48,729,307 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1248,700,629 - 48,729,480 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2252,047,110 - 52,075,971 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CTR9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1154,047,922 - 54,077,049 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl154,047,886 - 54,077,338 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038151,701,811 - 151,730,736 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ctr9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247662,823,229 - 2,851,742 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247662,823,561 - 2,851,742 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CTR9
541 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
NM_014633.5(CTR9):c.2580G>A (p.Gln860=) single nucleotide variant not provided [RCV001349177] Chr11:10772655 [GRCh38]
Chr11:10794202 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1 copy number loss See cases [RCV000136773] Chr11:9989516..16825806 [GRCh38]
Chr11:10011063..16847353 [GRCh37]
Chr11:9967639..16803929 [NCBI36]
Chr11:11p15.4-15.2		 pathogenic
NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys) single nucleotide variant CTR9-related neurodevelopmental disorder [RCV001796967]|not provided [RCV002272176]|not specified [RCV000209881] Chr11:10763811 [GRCh38]
Chr11:10785358 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic|uncertain significance
NM_014633.5(CTR9):c.2819G>A (p.Gly940Asp) single nucleotide variant not provided [RCV003315008] Chr11:10774103 [GRCh38]
Chr11:10795650 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_014633.5(CTR9):c.2518G>C (p.Glu840Gln) single nucleotide variant Inborn genetic diseases [RCV003295866] Chr11:10772593 [GRCh38]
Chr11:10794140 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3381T>G (p.Ser1127Arg) single nucleotide variant Inborn genetic diseases [RCV003261774] Chr11:10778964 [GRCh38]
Chr11:10800511 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_014633.5(CTR9):c.1686+290T>C single nucleotide variant not provided [RCV001690253] Chr11:10766780 [GRCh38]
Chr11:10788327 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2372+4A>C single nucleotide variant not provided [RCV001054480] Chr11:10770636 [GRCh38]
Chr11:10792183 [GRCh37]
Chr11:11p15.4		 benign|likely benign|uncertain significance
NM_014633.5(CTR9):c.2085G>A (p.Lys695=) single nucleotide variant CTR9-related disorder [RCV003903062]|not provided [RCV000926130] Chr11:10768467 [GRCh38]
Chr11:10790014 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_014633.5(CTR9):c.2149A>G (p.Thr717Ala) single nucleotide variant not provided [RCV001888993] Chr11:10770249 [GRCh38]
Chr11:10791796 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1873-4A>G single nucleotide variant not provided [RCV000906787] Chr11:10768070 [GRCh38]
Chr11:10789617 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.1497G>A (p.Thr499=) single nucleotide variant not provided [RCV000976154] Chr11:10764631 [GRCh38]
Chr11:10786178 [GRCh37]
Chr11:11p15.4		 likely benign
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3		 pathogenic
NM_014633.5(CTR9):c.3308A>G (p.Asp1103Gly) single nucleotide variant not provided [RCV001248360] Chr11:10778891 [GRCh38]
Chr11:10800438 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1475A>G (p.Tyr492Cys) single nucleotide variant not provided [RCV001247371] Chr11:10764609 [GRCh38]
Chr11:10786156 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2953C>T (p.Arg985Cys) single nucleotide variant not provided [RCV001234303] Chr11:10775274 [GRCh38]
Chr11:10796821 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3181G>A (p.Glu1061Lys) single nucleotide variant not provided [RCV001231472] Chr11:10778764 [GRCh38]
Chr11:10800311 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3284G>A (p.Arg1095Lys) single nucleotide variant Predisposition to Wilms tumor, CTR9-related [RCV003469352]|not provided [RCV001211782] Chr11:10778867 [GRCh38]
Chr11:10800414 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.373A>G (p.Met125Val) single nucleotide variant not provided [RCV001249422] Chr11:10755186 [GRCh38]
Chr11:10776733 [GRCh37]
Chr11:11p15.4		 not provided
NM_014633.5(CTR9):c.2867_2870del (p.Lys956fs) microsatellite not provided [RCV001229129] Chr11:10774147..10774150 [GRCh38]
Chr11:10795694..10795697 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2728-109dup duplication not provided [RCV001679513] Chr11:10773884..10773885 [GRCh38]
Chr11:10795431..10795432 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2445-13T>C single nucleotide variant not provided [RCV001713823] Chr11:10772507 [GRCh38]
Chr11:10794054 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.1413+41_1413+45dup duplication not provided [RCV001685106] Chr11:10764476..10764477 [GRCh38]
Chr11:10786023..10786024 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2580+79C>A single nucleotide variant not provided [RCV001716038] Chr11:10772734 [GRCh38]
Chr11:10794281 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.849+284G>A single nucleotide variant not provided [RCV001609333] Chr11:10762338 [GRCh38]
Chr11:10783885 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.502+150T>C single nucleotide variant not provided [RCV001669890] Chr11:10755945 [GRCh38]
Chr11:10777492 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2227-51G>A single nucleotide variant not provided [RCV001620476] Chr11:10770436 [GRCh38]
Chr11:10770436..10770437 [GRCh38]
Chr11:10791983 [GRCh37]
Chr11:10791983..10791984 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.1687-236A>C single nucleotide variant not provided [RCV001710726] Chr11:10767570 [GRCh38]
Chr11:10789117 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.592+116A>G single nucleotide variant not provided [RCV001595135] Chr11:10756954 [GRCh38]
Chr11:10778501 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.1661T>A (p.Phe554Tyr) single nucleotide variant Inborn genetic diseases [RCV003275989] Chr11:10766465 [GRCh38]
Chr11:10788012 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3238C>T (p.Arg1080Trp) single nucleotide variant not provided [RCV001061057] Chr11:10778821 [GRCh38]
Chr11:10800368 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2165A>G (p.Tyr722Cys) single nucleotide variant not provided [RCV001244350] Chr11:10770265 [GRCh38]
Chr11:10791812 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2902G>A (p.Glu968Lys) single nucleotide variant not provided [RCV001245201] Chr11:10775223 [GRCh38]
Chr11:10796770 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2768A>G (p.Asp923Gly) single nucleotide variant not provided [RCV001227605] Chr11:10774052 [GRCh38]
Chr11:10795599 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2516G>A (p.Arg839Gln) single nucleotide variant not provided [RCV001240685] Chr11:10772591 [GRCh38]
Chr11:10794138 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.295A>T (p.Lys99Ter) single nucleotide variant not provided [RCV003231981] Chr11:10755108 [GRCh38]
Chr11:10776655 [GRCh37]
Chr11:11p15.4		 uncertain significance
NC_000011.10:g.10751008A>G single nucleotide variant not provided [RCV001717965] Chr11:10751008 [GRCh38]
Chr11:10772555 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2728-109del deletion not provided [RCV002469931] Chr11:10773885 [GRCh38]
Chr11:10795432 [GRCh37]
Chr11:11p15.4		 likely benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_014633.5(CTR9):c.1597+207G>C single nucleotide variant not provided [RCV001530753] Chr11:10764938 [GRCh38]
Chr11:10786485 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.592+125T>G single nucleotide variant not provided [RCV001619625] Chr11:10756963 [GRCh38]
Chr11:10778510 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.385-194T>C single nucleotide variant not provided [RCV001672393] Chr11:10755484 [GRCh38]
Chr11:10777031 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.385-59T>C single nucleotide variant not provided [RCV001715048] Chr11:10755619 [GRCh38]
Chr11:10777166 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.1598-292G>A single nucleotide variant not provided [RCV001656586] Chr11:10766110 [GRCh38]
Chr11:10787657 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.593-325T>G single nucleotide variant not provided [RCV001670911] Chr11:10759848 [GRCh38]
Chr11:10781395 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2885+87G>T single nucleotide variant not provided [RCV001609620] Chr11:10774256 [GRCh38]
Chr11:10795803 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.3095+104_3095+109del microsatellite not provided [RCV001691211] Chr11:10775730..10775735 [GRCh38]
Chr11:10797277..10797282 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.741+286dup duplication not provided [RCV001680287] Chr11:10760594..10760595 [GRCh38]
Chr11:10782141..10782142 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2728-169C>A single nucleotide variant not provided [RCV001692834] Chr11:10773843 [GRCh38]
Chr11:10795390 [GRCh37]
Chr11:11p15.4		 benign
NC_000011.10:g.10750875T>C single nucleotide variant not provided [RCV001668812] Chr11:10750875 [GRCh38]
Chr11:10772422 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2372+147A>G single nucleotide variant not provided [RCV001645319] Chr11:10770779 [GRCh38]
Chr11:10792326 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.45+45G>A single nucleotide variant not provided [RCV001681582] Chr11:10751502 [GRCh38]
Chr11:10773049 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.3470A>C (p.Asn1157Thr) single nucleotide variant not provided [RCV001207582] Chr11:10779053 [GRCh38]
Chr11:10800600 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.45+6T>C single nucleotide variant not provided [RCV001203014] Chr11:10751463 [GRCh38]
Chr11:10773010 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1180C>T (p.Arg394Ter) single nucleotide variant not provided [RCV001205946] Chr11:10763865 [GRCh38]
Chr11:10785412 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1518A>G (p.Leu506=) single nucleotide variant not provided [RCV001205123] Chr11:10764652 [GRCh38]
Chr11:10786199 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3020A>G (p.Lys1007Arg) single nucleotide variant not provided [RCV001204599] Chr11:10775558 [GRCh38]
Chr11:10797105 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3257A>G (p.Asp1086Gly) single nucleotide variant not provided [RCV001228846] Chr11:10778840 [GRCh38]
Chr11:10800387 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3358G>A (p.Asp1120Asn) single nucleotide variant Inborn genetic diseases [RCV003163621]|not provided [RCV001213141] Chr11:10778941 [GRCh38]
Chr11:10800488 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.470A>G (p.Asn157Ser) single nucleotide variant not provided [RCV001248361] Chr11:10755763 [GRCh38]
Chr11:10777310 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2926G>A (p.Glu976Lys) single nucleotide variant not provided [RCV001349576] Chr11:10775247 [GRCh38]
Chr11:10796794 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1931C>G (p.Ala644Gly) single nucleotide variant not provided [RCV001348820] Chr11:10768132 [GRCh38]
Chr11:10789679 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2678G>A (p.Gly893Asp) single nucleotide variant not provided [RCV001312867] Chr11:10773224 [GRCh38]
Chr11:10794771 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.741+3A>G single nucleotide variant not provided [RCV001301376] Chr11:10760324 [GRCh38]
Chr11:10781871 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3487A>G (p.Arg1163Gly) single nucleotide variant Inborn genetic diseases [RCV004036098]|not provided [RCV001298256] Chr11:10779070 [GRCh38]
Chr11:10800617 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2590C>T (p.Arg864Cys) single nucleotide variant not provided [RCV001320376] Chr11:10773136 [GRCh38]
Chr11:10794683 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3118A>G (p.Asn1040Asp) single nucleotide variant not provided [RCV001313083] Chr11:10778701 [GRCh38]
Chr11:10800248 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.500T>G (p.Leu167Arg) single nucleotide variant not provided [RCV001306578] Chr11:10755793 [GRCh38]
Chr11:10777340 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1143C>T (p.Leu381=) single nucleotide variant not provided [RCV001422940] Chr11:10763828 [GRCh38]
Chr11:10785375 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2027C>T (p.Ala676Val) single nucleotide variant not provided [RCV001352027] Chr11:10768409 [GRCh38]
Chr11:10789956 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.568T>C (p.Leu190=) single nucleotide variant not provided [RCV001433827] Chr11:10756814 [GRCh38]
Chr11:10778361 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3301C>A (p.Gln1101Lys) single nucleotide variant Inborn genetic diseases [RCV003346490]|not provided [RCV001339371] Chr11:10778884 [GRCh38]
Chr11:10800431 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2145A>G (p.Gln715=) single nucleotide variant not provided [RCV001414653] Chr11:10770245 [GRCh38]
Chr11:10791792 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1961-5T>G single nucleotide variant not provided [RCV001373142] Chr11:10768338 [GRCh38]
Chr11:10789885 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2237T>C (p.Val746Ala) single nucleotide variant Inborn genetic diseases [RCV004034989]|not provided [RCV001319860] Chr11:10770497 [GRCh38]
Chr11:10792044 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3221G>A (p.Arg1074Gln) single nucleotide variant not provided [RCV001370206] Chr11:10778804 [GRCh38]
Chr11:10800351 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3244G>A (p.Asp1082Asn) single nucleotide variant Predisposition to Wilms tumor [RCV003154006]|not provided [RCV001347009] Chr11:10778827 [GRCh38]
Chr11:10800374 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3496G>C (p.Glu1166Gln) single nucleotide variant not provided [RCV001372146] Chr11:10779079 [GRCh38]
Chr11:10800626 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3425G>C (p.Gly1142Ala) single nucleotide variant not provided [RCV001346233] Chr11:10779008 [GRCh38]
Chr11:10800555 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2140C>T (p.His714Tyr) single nucleotide variant not provided [RCV001314179] Chr11:10770240 [GRCh38]
Chr11:10791787 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.593-8T>A single nucleotide variant not provided [RCV001322345] Chr11:10760165 [GRCh38]
Chr11:10781712 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.484A>G (p.Asn162Asp) single nucleotide variant not provided [RCV001361837] Chr11:10755777 [GRCh38]
Chr11:10777324 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3383C>G (p.Ala1128Gly) single nucleotide variant not provided [RCV001363558] Chr11:10778966 [GRCh38]
Chr11:10800513 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3229C>T (p.Arg1077Ter) single nucleotide variant not provided [RCV001299531] Chr11:10778812 [GRCh38]
Chr11:10800359 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3452C>T (p.Ser1151Leu) single nucleotide variant not provided [RCV001299271] Chr11:10779035 [GRCh38]
Chr11:10800582 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1493C>G (p.Thr498Ser) single nucleotide variant Inborn genetic diseases [RCV002543062]|not provided [RCV001297970] Chr11:10764627 [GRCh38]
Chr11:10786174 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2000G>A (p.Arg667His) single nucleotide variant not provided [RCV001341130] Chr11:10768382 [GRCh38]
Chr11:10789929 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2954G>A (p.Arg985His) single nucleotide variant not provided [RCV001361200] Chr11:10775275 [GRCh38]
Chr11:10796822 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3356A>G (p.Asn1119Ser) single nucleotide variant not provided [RCV001365579] Chr11:10778939 [GRCh38]
Chr11:10800486 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.502+10C>G single nucleotide variant not provided [RCV001453583] Chr11:10755805 [GRCh38]
Chr11:10777352 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.585A>G (p.Gly195=) single nucleotide variant not provided [RCV001522208] Chr11:10756831 [GRCh38]
Chr11:10778378 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2885+8C>A single nucleotide variant not provided [RCV001457082] Chr11:10774177 [GRCh38]
Chr11:10795724 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.46-3dup duplication CTR9-related disorder [RCV003900501]|not provided [RCV001438748] Chr11:10752665..10752666 [GRCh38]
Chr11:10774212..10774213 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.171A>G (p.Thr57=) single nucleotide variant not provided [RCV001502151] Chr11:10754984 [GRCh38]
Chr11:10776531 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2313T>C (p.Asp771=) single nucleotide variant not provided [RCV001516246] Chr11:10770573 [GRCh38]
Chr11:10792120 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_014633.5(CTR9):c.669A>G (p.Arg223=) single nucleotide variant not provided [RCV001436116] Chr11:10760249 [GRCh38]
Chr11:10781796 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2034A>G (p.Ala678=) single nucleotide variant not provided [RCV001488605] Chr11:10768416 [GRCh38]
Chr11:10789963 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1598-4T>C single nucleotide variant not provided [RCV001492851] Chr11:10766398 [GRCh38]
Chr11:10787945 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3449A>G (p.Glu1150Gly) single nucleotide variant CTR9-related disorder [RCV003931062]|not provided [RCV001512427] Chr11:10779032 [GRCh38]
Chr11:10800579 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_014633.5(CTR9):c.1233T>C (p.Asp411=) single nucleotide variant not provided [RCV001517875] Chr11:10764150 [GRCh38]
Chr11:10785697 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_014633.5(CTR9):c.1557G>A (p.Leu519=) single nucleotide variant not provided [RCV001517876] Chr11:10764691 [GRCh38]
Chr11:10786238 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_014633.5(CTR9):c.2751T>C (p.Phe917=) single nucleotide variant not provided [RCV001489407] Chr11:10774035 [GRCh38]
Chr11:10795582 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3149A>G (p.Lys1050Arg) single nucleotide variant not provided [RCV001521800] Chr11:10778732 [GRCh38]
Chr11:10800279 [GRCh37]
Chr11:11p15.4		 benign|conflicting interpretations of pathogenicity
NM_014633.5(CTR9):c.2142C>T (p.His714=) single nucleotide variant not provided [RCV001493276] Chr11:10770242 [GRCh38]
Chr11:10791789 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3154T>C (p.Cys1052Arg) single nucleotide variant CTR9-related disorder [RCV003921089]|not provided [RCV001512695] Chr11:10778737 [GRCh38]
Chr11:10800284 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2643T>C (p.Tyr881=) single nucleotide variant not provided [RCV001427578] Chr11:10773189 [GRCh38]
Chr11:10794736 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2613A>G (p.Gln871=) single nucleotide variant not provided [RCV001448972] Chr11:10773159 [GRCh38]
Chr11:10794706 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1575C>T (p.Arg525=) single nucleotide variant not provided [RCV001449390] Chr11:10764709 [GRCh38]
Chr11:10786256 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3211G>A (p.Gly1071Ser) single nucleotide variant not provided [RCV001410386] Chr11:10778794 [GRCh38]
Chr11:10800341 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity
NM_014633.5(CTR9):c.958-6C>A single nucleotide variant not provided [RCV001408062] Chr11:10763637 [GRCh38]
Chr11:10785184 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2955T>C (p.Arg985=) single nucleotide variant not provided [RCV001423991] Chr11:10775276 [GRCh38]
Chr11:10796823 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1734A>G (p.Lys578=) single nucleotide variant not provided [RCV001435164] Chr11:10767853 [GRCh38]
Chr11:10789400 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.75G>A (p.Pro25=) single nucleotide variant not provided [RCV001472863] Chr11:10752701 [GRCh38]
Chr11:10774248 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.6G>T (p.Ser2=) single nucleotide variant not provided [RCV001462033] Chr11:10751418 [GRCh38]
Chr11:10772965 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2372+8T>A single nucleotide variant CTR9-related disorder [RCV003966052]|not provided [RCV001510030] Chr11:10770640 [GRCh38]
Chr11:10792187 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_014633.5(CTR9):c.2646G>T (p.Val882=) single nucleotide variant CTR9-related disorder [RCV003900709]|not provided [RCV001496289] Chr11:10773192 [GRCh38]
Chr11:10794739 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3292G>A (p.Gly1098Ser) single nucleotide variant not provided [RCV001451635] Chr11:10778875 [GRCh38]
Chr11:10800422 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2745A>G (p.Gly915=) single nucleotide variant not provided [RCV001455139] Chr11:10774029 [GRCh38]
Chr11:10795576 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.240A>G (p.Lys80=) single nucleotide variant not provided [RCV001511404] Chr11:10755053 [GRCh38]
Chr11:10776600 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2885+9A>G single nucleotide variant not provided [RCV001516391] Chr11:10774178 [GRCh38]
Chr11:10795725 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2727+305C>T single nucleotide variant not provided [RCV001674515] Chr11:10773578 [GRCh38]
Chr11:10795125 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.3402G>A (p.Ser1134=) single nucleotide variant CTR9-related disorder [RCV003948528]|not provided [RCV001516459] Chr11:10778985 [GRCh38]
Chr11:10800532 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_014633.5(CTR9):c.2110-229A>G single nucleotide variant not provided [RCV001652130] Chr11:10769981 [GRCh38]
Chr11:10791528 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.502+68G>A single nucleotide variant not provided [RCV001654787] Chr11:10755863 [GRCh38]
Chr11:10777410 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.1686+247A>G single nucleotide variant not provided [RCV001674070] Chr11:10766737 [GRCh38]
Chr11:10788284 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.1687-304T>G single nucleotide variant not provided [RCV001674183] Chr11:10767502 [GRCh38]
Chr11:10789049 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2591G>A (p.Arg864His) single nucleotide variant CTR9-related disorder [RCV003948479]|not provided [RCV001504556] Chr11:10773137 [GRCh38]
Chr11:10794684 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2727+9T>C single nucleotide variant not provided [RCV001484422] Chr11:10773282 [GRCh38]
Chr11:10794829 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.46-227C>T single nucleotide variant not provided [RCV001687402] Chr11:10752445 [GRCh38]
Chr11:10773992 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.1461C>T (p.His487=) single nucleotide variant not provided [RCV001514588] Chr11:10764595 [GRCh38]
Chr11:10786142 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.1800T>C (p.Asp600=) single nucleotide variant not provided [RCV001472598] Chr11:10767919 [GRCh38]
Chr11:10789466 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3252C>T (p.Asp1084=) single nucleotide variant not provided [RCV001501514] Chr11:10778835 [GRCh38]
Chr11:10800382 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1455G>A (p.Ala485=) single nucleotide variant CTR9-related disorder [RCV003980628]|not provided [RCV001522804] Chr11:10764589 [GRCh38]
Chr11:10786136 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_014633.5(CTR9):c.762T>C (p.Gly254=) single nucleotide variant not provided [RCV001513188] Chr11:10761967 [GRCh38]
Chr11:10783514 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2097C>T (p.Ser699=) single nucleotide variant not provided [RCV001516937] Chr11:10768479 [GRCh38]
Chr11:10790026 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_014633.5(CTR9):c.2942C>G (p.Pro981Arg) single nucleotide variant Inborn genetic diseases [RCV003264050]|not provided [RCV001523365] Chr11:10775263 [GRCh38]
Chr11:10796810 [GRCh37]
Chr11:11p15.4		 benign|uncertain significance
NM_014633.5(CTR9):c.3195G>A (p.Lys1065=) single nucleotide variant CTR9-related disorder [RCV003931067]|not provided [RCV001512696] Chr11:10778778 [GRCh38]
Chr11:10800325 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.1542T>C (p.His514=) single nucleotide variant not provided [RCV001478862] Chr11:10764676 [GRCh38]
Chr11:10786223 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.273G>A (p.Ala91=) single nucleotide variant not provided [RCV001521339] Chr11:10755086 [GRCh38]
Chr11:10776633 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.1687-3C>T single nucleotide variant CTR9-related disorder [RCV003931049]|not provided [RCV001510835] Chr11:10767803 [GRCh38]
Chr11:10789350 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_014633.5(CTR9):c.2445-8T>C single nucleotide variant CTR9-related disorder [RCV003940892]|not provided [RCV001510904] Chr11:10772512 [GRCh38]
Chr11:10794059 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_014633.5(CTR9):c.2853G>C (p.Glu951Asp) single nucleotide variant not provided [RCV001521642] Chr11:10774137 [GRCh38]
Chr11:10795684 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.1428G>A (p.Ala476=) single nucleotide variant not provided [RCV001415909] Chr11:10764562 [GRCh38]
Chr11:10786109 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1251A>G (p.Glu417=) single nucleotide variant not provided [RCV001452230] Chr11:10764168 [GRCh38]
Chr11:10785715 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1494C>T (p.Thr498=) single nucleotide variant not provided [RCV001512204] Chr11:10764628 [GRCh38]
Chr11:10786175 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.1978A>G (p.Lys660Glu) single nucleotide variant not provided [RCV003109198] Chr11:10768360 [GRCh38]
Chr11:10789907 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.850-23T>C single nucleotide variant not provided [RCV001759081] Chr11:10763408 [GRCh38]
Chr11:10784955 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2886-87A>G single nucleotide variant not provided [RCV001759288] Chr11:10775120 [GRCh38]
Chr11:10796667 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.144+132G>A single nucleotide variant not provided [RCV001768194] Chr11:10752902 [GRCh38]
Chr11:10774449 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1687-137del deletion not provided [RCV001769516] Chr11:10767659 [GRCh38]
Chr11:10789206 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1687-139AAAG[2] microsatellite not provided [RCV001776541] Chr11:10767667..10767670 [GRCh38]
Chr11:10789214..10789217 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1597+212T>A single nucleotide variant not provided [RCV001759080] Chr11:10764943 [GRCh38]
Chr11:10786490 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2886-215T>G single nucleotide variant not provided [RCV001759036] Chr11:10774992 [GRCh38]
Chr11:10796539 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2886-139C>T single nucleotide variant not provided [RCV001753005] Chr11:10775068 [GRCh38]
Chr11:10796615 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2728-97C>T single nucleotide variant not provided [RCV001769517] Chr11:10773915 [GRCh38]
Chr11:10795462 [GRCh37]
Chr11:11p15.4		 likely benign
NC_000011.10:g.10750932T>C single nucleotide variant not provided [RCV001757740] Chr11:10750932 [GRCh38]
Chr11:10772479 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.384+194T>C single nucleotide variant not provided [RCV001757774] Chr11:10755391 [GRCh38]
Chr11:10776938 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2373-171G>A single nucleotide variant not provided [RCV001769766] Chr11:10771374 [GRCh38]
Chr11:10792921 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.384+133G>C single nucleotide variant not provided [RCV001769793] Chr11:10755330 [GRCh38]
Chr11:10776877 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.145-57C>T single nucleotide variant not provided [RCV001759305] Chr11:10754901 [GRCh38]
Chr11:10776448 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.43G>A (p.Glu15Lys) single nucleotide variant CTR9-related neurodevelopmental disorder [RCV001796986] Chr11:10751455 [GRCh38]
Chr11:10773002 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_014633.5(CTR9):c.109G>C (p.Glu37Gln) single nucleotide variant CTR9-related neurodevelopmental disorder [RCV001796987] Chr11:10752735 [GRCh38]
Chr11:10774282 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_014633.5(CTR9):c.50T>C (p.Ile17Thr) single nucleotide variant CTR9-related neurodevelopmental disorder [RCV001796988] Chr11:10752676 [GRCh38]
Chr11:10774223 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1405G>A (p.Glu469Lys) single nucleotide variant CTR9-related neurodevelopmental disorder [RCV001796989] Chr11:10764428 [GRCh38]
Chr11:10785975 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_014633.5(CTR9):c.254G>A (p.Cys85Tyr) single nucleotide variant CTR9-related neurodevelopmental disorder [RCV001796990] Chr11:10755067 [GRCh38]
Chr11:10776614 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_014633.5(CTR9):c.76G>C (p.Glu26Gln) single nucleotide variant CTR9-related neurodevelopmental disorder [RCV001796991] Chr11:10752702 [GRCh38]
Chr11:10774249 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_014633.5(CTR9):c.1364A>G (p.Asn455Ser) single nucleotide variant CTR9-related neurodevelopmental disorder [RCV001796992] Chr11:10764387 [GRCh38]
Chr11:10785934 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_014633.5(CTR9):c.2296A>G (p.Thr766Ala) single nucleotide variant CTR9-related neurodevelopmental disorder [RCV001796993] Chr11:10770556 [GRCh38]
Chr11:10792103 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.74C>G (p.Pro25Arg) single nucleotide variant CTR9-related neurodevelopmental disorder [RCV001796994]|Inborn genetic diseases [RCV004039186] Chr11:10752700 [GRCh38]
Chr11:10774247 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic
NM_014633.5(CTR9):c.2633G>A (p.Arg878Gln) single nucleotide variant CTR9-related neurodevelopmental disorder [RCV001796995] Chr11:10773179 [GRCh38]
Chr11:10794726 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_014633.5(CTR9):c.3095+232C>A single nucleotide variant not provided [RCV001753079] Chr11:10775865 [GRCh38]
Chr11:10797412 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1687-136G>A single nucleotide variant not provided [RCV001753210] Chr11:10767670 [GRCh38]
Chr11:10789217 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1194+56A>G single nucleotide variant not provided [RCV001768072] Chr11:10763935 [GRCh38]
Chr11:10785482 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.741+170G>A single nucleotide variant not provided [RCV001768181] Chr11:10760491 [GRCh38]
Chr11:10782038 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.742-273C>T single nucleotide variant not provided [RCV001768071] Chr11:10761674 [GRCh38]
Chr11:10783221 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.592+265A>G single nucleotide variant not provided [RCV001753048] Chr11:10757103 [GRCh38]
Chr11:10778650 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.46-95G>A single nucleotide variant not provided [RCV001757788] Chr11:10752577 [GRCh38]
Chr11:10774124 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.502+137C>T single nucleotide variant not provided [RCV001757791] Chr11:10755932 [GRCh38]
Chr11:10777479 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.741+286del deletion not provided [RCV001758875] Chr11:10760595 [GRCh38]
Chr11:10782142 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.986A>G (p.Tyr329Cys) single nucleotide variant not provided [RCV002008440] Chr11:10763671 [GRCh38]
Chr11:10785218 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1194+1G>A single nucleotide variant not provided [RCV001971552] Chr11:10763880 [GRCh38]
Chr11:10785427 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3166G>T (p.Glu1056Ter) single nucleotide variant not provided [RCV001893312] Chr11:10778749 [GRCh38]
Chr11:10800296 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.594G>A (p.Ala198=) single nucleotide variant not provided [RCV001948476] Chr11:10760174 [GRCh38]
Chr11:10781721 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3339C>G (p.His1113Gln) single nucleotide variant not provided [RCV001926577] Chr11:10778922 [GRCh38]
Chr11:10800469 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2482G>A (p.Val828Met) single nucleotide variant not provided [RCV001908800] Chr11:10772557 [GRCh38]
Chr11:10794104 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3365G>A (p.Arg1122His) single nucleotide variant Predisposition to Wilms tumor [RCV003152639]|not provided [RCV001909172] Chr11:10778948 [GRCh38]
Chr11:10800495 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3290C>T (p.Ser1097Phe) single nucleotide variant not provided [RCV002041631] Chr11:10778873 [GRCh38]
Chr11:10800420 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2670G>A (p.Met890Ile) single nucleotide variant not provided [RCV001949205] Chr11:10773216 [GRCh38]
Chr11:10794763 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.856A>G (p.Ser286Gly) single nucleotide variant not provided [RCV001913068] Chr11:10763437 [GRCh38]
Chr11:10784984 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2528C>T (p.Ala843Val) single nucleotide variant not provided [RCV001928710] Chr11:10772603 [GRCh38]
Chr11:10794150 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2886-3A>G single nucleotide variant not provided [RCV001946544] Chr11:10775204 [GRCh38]
Chr11:10796751 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1718A>G (p.Asn573Ser) single nucleotide variant not provided [RCV001953308] Chr11:10767837 [GRCh38]
Chr11:10789384 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3096-17A>G single nucleotide variant not provided [RCV002014828] Chr11:10778662 [GRCh38]
Chr11:10800209 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1255G>A (p.Ala419Thr) single nucleotide variant not provided [RCV001886461] Chr11:10764172 [GRCh38]
Chr11:10785719 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1181G>A (p.Arg394Gln) single nucleotide variant not provided [RCV001992814] Chr11:10763866 [GRCh38]
Chr11:10785413 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2700G>A (p.Glu900=) single nucleotide variant not provided [RCV001958960] Chr11:10773246 [GRCh38]
Chr11:10794793 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1195-5C>A single nucleotide variant not provided [RCV001941561] Chr11:10764107 [GRCh38]
Chr11:10785654 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2227-3C>T single nucleotide variant not provided [RCV002033803] Chr11:10770484 [GRCh38]
Chr11:10792031 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2906G>A (p.Gly969Glu) single nucleotide variant not provided [RCV001963640] Chr11:10775227 [GRCh38]
Chr11:10796774 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.979C>T (p.Gln327Ter) single nucleotide variant not provided [RCV001920329] Chr11:10763664 [GRCh38]
Chr11:10785211 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.236A>G (p.Glu79Gly) single nucleotide variant Inborn genetic diseases [RCV004041596]|not provided [RCV001903057] Chr11:10755049 [GRCh38]
Chr11:10776596 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2618A>G (p.Lys873Arg) single nucleotide variant not provided [RCV001990981] Chr11:10773164 [GRCh38]
Chr11:10794711 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2684C>G (p.Thr895Ser) single nucleotide variant not provided [RCV001958310] Chr11:10773230 [GRCh38]
Chr11:10794777 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2941C>T (p.Pro981Ser) single nucleotide variant not provided [RCV002027095] Chr11:10775262 [GRCh38]
Chr11:10796809 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1132A>G (p.Met378Val) single nucleotide variant not provided [RCV002029788] Chr11:10763817 [GRCh38]
Chr11:10785364 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3220C>T (p.Arg1074Trp) single nucleotide variant not provided [RCV002030987] Chr11:10778803 [GRCh38]
Chr11:10800350 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3230G>A (p.Arg1077Gln) single nucleotide variant Inborn genetic diseases [RCV004043700]|not provided [RCV001956002] Chr11:10778813 [GRCh38]
Chr11:10800360 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.718G>A (p.Val240Ile) single nucleotide variant not provided [RCV001900796] Chr11:10760298 [GRCh38]
Chr11:10781845 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.45+6T>G single nucleotide variant not provided [RCV002027403] Chr11:10751463 [GRCh38]
Chr11:10773010 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2226+8G>T single nucleotide variant CTR9-related disorder [RCV003892884]|not provided [RCV002049752] Chr11:10770334 [GRCh38]
Chr11:10791881 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2234A>G (p.His745Arg) single nucleotide variant not provided [RCV001991587] Chr11:10770494 [GRCh38]
Chr11:10792041 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1431A>T (p.Ser477=) single nucleotide variant not provided [RCV001994628] Chr11:10764565 [GRCh38]
Chr11:10786112 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2868_2873del (p.Lys958_Lys959del) deletion not provided [RCV001930435] Chr11:10774150..10774155 [GRCh38]
Chr11:10795697..10795702 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1427C>T (p.Ala476Val) single nucleotide variant not provided [RCV001897265] Chr11:10764561 [GRCh38]
Chr11:10786108 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.572G>A (p.Arg191His) single nucleotide variant not provided [RCV001936691] Chr11:10756818 [GRCh38]
Chr11:10778365 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.313A>G (p.Asn105Asp) single nucleotide variant not provided [RCV001989296] Chr11:10755126 [GRCh38]
Chr11:10776673 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3178G>A (p.Asp1060Asn) single nucleotide variant not provided [RCV001955381] Chr11:10778761 [GRCh38]
Chr11:10800308 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.741+4T>C single nucleotide variant not provided [RCV001876358] Chr11:10760325 [GRCh38]
Chr11:10781872 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2174G>A (p.Arg725Gln) single nucleotide variant Inborn genetic diseases [RCV002562067]|not provided [RCV001982319] Chr11:10770274 [GRCh38]
Chr11:10791821 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2135A>G (p.Tyr712Cys) single nucleotide variant not provided [RCV001919465] Chr11:10770235 [GRCh38]
Chr11:10791782 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.601C>T (p.Arg201Cys) single nucleotide variant not provided [RCV001923687] Chr11:10760181 [GRCh38]
Chr11:10781728 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3512A>G (p.Asp1171Gly) single nucleotide variant not provided [RCV001901438] Chr11:10779095 [GRCh38]
Chr11:10800642 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2368C>T (p.His790Tyr) single nucleotide variant not provided [RCV001998067] Chr11:10770628 [GRCh38]
Chr11:10792175 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3360C>G (p.Asp1120Glu) single nucleotide variant not provided [RCV001906224] Chr11:10778943 [GRCh38]
Chr11:10800490 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1960+3G>A single nucleotide variant not provided [RCV001906260] Chr11:10768164 [GRCh38]
Chr11:10789711 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2310del (p.Asp771fs) deletion not provided [RCV002010467] Chr11:10770568 [GRCh38]
Chr11:10792115 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3204C>T (p.Ser1068=) single nucleotide variant not provided [RCV002049479] Chr11:10778787 [GRCh38]
Chr11:10800334 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_014633.5(CTR9):c.869A>G (p.His290Arg) single nucleotide variant not provided [RCV001961356] Chr11:10763450 [GRCh38]
Chr11:10784997 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1414-3T>C single nucleotide variant not provided [RCV001884023] Chr11:10764545 [GRCh38]
Chr11:10786092 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1394G>C (p.Gly465Ala) single nucleotide variant not provided [RCV001997509] Chr11:10764417 [GRCh38]
Chr11:10785964 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3139G>A (p.Glu1047Lys) single nucleotide variant not provided [RCV001997948] Chr11:10778722 [GRCh38]
Chr11:10800269 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3425G>A (p.Gly1142Asp) single nucleotide variant not provided [RCV002034919] Chr11:10779008 [GRCh38]
Chr11:10800555 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2226+4A>T single nucleotide variant not provided [RCV001951984] Chr11:10770330 [GRCh38]
Chr11:10791877 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2727+8A>G single nucleotide variant not provided [RCV001899003] Chr11:10773281 [GRCh38]
Chr11:10794828 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2791A>G (p.Ile931Val) single nucleotide variant not provided [RCV001866965] Chr11:10774075 [GRCh38]
Chr11:10795622 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.124C>T (p.His42Tyr) single nucleotide variant not provided [RCV002031715] Chr11:10752750 [GRCh38]
Chr11:10774297 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1194+3A>G single nucleotide variant not provided [RCV002048893] Chr11:10763882 [GRCh38]
Chr11:10785429 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2101G>A (p.Val701Ile) single nucleotide variant Inborn genetic diseases [RCV003348670]|not provided [RCV001958207] Chr11:10768483 [GRCh38]
Chr11:10790030 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1413+4G>A single nucleotide variant not provided [RCV001931467] Chr11:10764440 [GRCh38]
Chr11:10785987 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.144+4A>T single nucleotide variant not provided [RCV002013580] Chr11:10752774 [GRCh38]
Chr11:10774321 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3332G>C (p.Arg1111Thr) single nucleotide variant not provided [RCV001883108] Chr11:10778915 [GRCh38]
Chr11:10800462 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.355A>G (p.Met119Val) single nucleotide variant not provided [RCV002030227] Chr11:10755168 [GRCh38]
Chr11:10776715 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.45+5G>T single nucleotide variant not provided [RCV002012032] Chr11:10751462 [GRCh38]
Chr11:10773009 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2109+6_2109+7insT insertion not provided [RCV002090967] Chr11:10768497..10768498 [GRCh38]
Chr11:10790044..10790045 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.951T>C (p.His317=) single nucleotide variant not provided [RCV002073877] Chr11:10763532 [GRCh38]
Chr11:10785079 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.360C>T (p.Ala120=) single nucleotide variant CTR9-related disorder [RCV003923482]|not provided [RCV002186744] Chr11:10755173 [GRCh38]
Chr11:10776720 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2958A>G (p.Pro986=) single nucleotide variant not provided [RCV002129493] Chr11:10775279 [GRCh38]
Chr11:10796826 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2838A>G (p.Glu946=) single nucleotide variant not provided [RCV002168919] Chr11:10774122 [GRCh38]
Chr11:10795669 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1527G>A (p.Ala509=) single nucleotide variant not provided [RCV002130051] Chr11:10764661 [GRCh38]
Chr11:10786208 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.871C>T (p.Leu291=) single nucleotide variant not provided [RCV002105136] Chr11:10763452 [GRCh38]
Chr11:10784999 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.804C>T (p.Asn268=) single nucleotide variant not provided [RCV002209054] Chr11:10762009 [GRCh38]
Chr11:10783556 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3470A>T (p.Asn1157Ile) single nucleotide variant not provided [RCV002124868] Chr11:10779053 [GRCh38]
Chr11:10800600 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.503-15T>A single nucleotide variant not provided [RCV002089118] Chr11:10756734 [GRCh38]
Chr11:10778281 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1029A>G (p.Pro343=) single nucleotide variant not provided [RCV002127668] Chr11:10763714 [GRCh38]
Chr11:10785261 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2094C>A (p.Ile698=) single nucleotide variant not provided [RCV002169549] Chr11:10768476 [GRCh38]
Chr11:10790023 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2586G>A (p.Glu862=) single nucleotide variant not provided [RCV002147587] Chr11:10773132 [GRCh38]
Chr11:10794679 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1413+12G>T single nucleotide variant not provided [RCV002086907] Chr11:10764448 [GRCh38]
Chr11:10785995 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.3120C>T (p.Asn1040=) single nucleotide variant not provided [RCV002165176] Chr11:10778703 [GRCh38]
Chr11:10800250 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.1653A>G (p.Ser551=) single nucleotide variant not provided [RCV002130042] Chr11:10766457 [GRCh38]
Chr11:10788004 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2553G>A (p.Leu851=) single nucleotide variant not provided [RCV002215970] Chr11:10772628 [GRCh38]
Chr11:10794175 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.502+7G>A single nucleotide variant not provided [RCV002174259] Chr11:10755802 [GRCh38]
Chr11:10777349 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.84T>C (p.Asp28=) single nucleotide variant not provided [RCV002093668] Chr11:10752710 [GRCh38]
Chr11:10774257 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2325T>C (p.Asn775=) single nucleotide variant not provided [RCV002196778] Chr11:10770585 [GRCh38]
Chr11:10792132 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1404G>A (p.Gly468=) single nucleotide variant not provided [RCV002107932] Chr11:10764427 [GRCh38]
Chr11:10785974 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2109+7G>T single nucleotide variant not provided [RCV002113408] Chr11:10768498 [GRCh38]
Chr11:10790045 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2109+8C>T single nucleotide variant not provided [RCV002115413] Chr11:10768499 [GRCh38]
Chr11:10790046 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3146G>A (p.Arg1049Gln) single nucleotide variant CTR9-related disorder [RCV003913568]|not provided [RCV002194973] Chr11:10778729 [GRCh38]
Chr11:10800276 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3157G>T (p.Ala1053Ser) single nucleotide variant CTR9-related disorder [RCV003958632]|Inborn genetic diseases [RCV003015233]|not provided [RCV002088461] Chr11:10778740 [GRCh38]
Chr11:10800287 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_014633.5(CTR9):c.3159C>T (p.Ala1053=) single nucleotide variant not provided [RCV002113130] Chr11:10778742 [GRCh38]
Chr11:10800289 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1125C>T (p.Tyr375=) single nucleotide variant not provided [RCV002172176] Chr11:10763810 [GRCh38]
Chr11:10785357 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.417A>G (p.Leu139=) single nucleotide variant not provided [RCV002097684] Chr11:10755710 [GRCh38]
Chr11:10777257 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2160A>C (p.Val720=) single nucleotide variant not provided [RCV002116968] Chr11:10770260 [GRCh38]
Chr11:10791807 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.165A>G (p.Gly55=) single nucleotide variant not provided [RCV002173261] Chr11:10754978 [GRCh38]
Chr11:10776525 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3228A>G (p.Pro1076=) single nucleotide variant not provided [RCV002095953] Chr11:10778811 [GRCh38]
Chr11:10800358 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2109+20G>T single nucleotide variant not provided [RCV002208060] Chr11:10768511 [GRCh38]
Chr11:10790058 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.348G>A (p.Leu116=) single nucleotide variant not provided [RCV002211448] Chr11:10755161 [GRCh38]
Chr11:10776708 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.837T>C (p.Phe279=) single nucleotide variant not provided [RCV002170491] Chr11:10762042 [GRCh38]
Chr11:10783589 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2775T>C (p.Thr925=) single nucleotide variant not provided [RCV002130793] Chr11:10774059 [GRCh38]
Chr11:10795606 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2193C>G (p.Gly731=) single nucleotide variant not provided [RCV002108111] Chr11:10770293 [GRCh38]
Chr11:10791840 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3063G>A (p.Ser1021=) single nucleotide variant not provided [RCV002088588] Chr11:10775601 [GRCh38]
Chr11:10797148 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1155T>C (p.Tyr385=) single nucleotide variant not provided [RCV002113087] Chr11:10763840 [GRCh38]
Chr11:10785387 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.882T>C (p.His294=) single nucleotide variant not provided [RCV002076660] Chr11:10763463 [GRCh38]
Chr11:10785010 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3095+7T>G single nucleotide variant not provided [RCV002111857] Chr11:10775640 [GRCh38]
Chr11:10797187 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2475G>A (p.Gln825=) single nucleotide variant not provided [RCV002132830] Chr11:10772550 [GRCh38]
Chr11:10794097 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2559G>A (p.Arg853=) single nucleotide variant not provided [RCV002078584] Chr11:10772634 [GRCh38]
Chr11:10794181 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.990T>C (p.Tyr330=) single nucleotide variant not provided [RCV002196340] Chr11:10763675 [GRCh38]
Chr11:10785222 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3177C>T (p.Ser1059=) single nucleotide variant not provided [RCV002213037] Chr11:10778760 [GRCh38]
Chr11:10800307 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.972A>G (p.Gln324=) single nucleotide variant not provided [RCV002132955] Chr11:10763657 [GRCh38]
Chr11:10785204 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1920C>G (p.Leu640=) single nucleotide variant not provided [RCV002132957] Chr11:10768121 [GRCh38]
Chr11:10789668 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.46-10del deletion not provided [RCV002122845] Chr11:10752659 [GRCh38]
Chr11:10774206 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.1641T>C (p.Phe547=) single nucleotide variant not provided [RCV002177091] Chr11:10766445 [GRCh38]
Chr11:10787992 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2988G>A (p.Lys996=) single nucleotide variant not provided [RCV002216627] Chr11:10775526 [GRCh38]
Chr11:10797073 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.742-15A>G single nucleotide variant not provided [RCV002082020] Chr11:10761932 [GRCh38]
Chr11:10783479 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2826C>T (p.Gly942=) single nucleotide variant not provided [RCV002135454] Chr11:10774110 [GRCh38]
Chr11:10795657 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2352A>G (p.Lys784=) single nucleotide variant not provided [RCV002081488] Chr11:10770612 [GRCh38]
Chr11:10792159 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1311A>G (p.Ala437=) single nucleotide variant not provided [RCV002100058] Chr11:10764334 [GRCh38]
Chr11:10785881 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1281A>C (p.Ile427=) single nucleotide variant not provided [RCV002163637] Chr11:10764198 [GRCh38]
Chr11:10785745 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3471C>T (p.Asn1157=) single nucleotide variant not provided [RCV002100412] Chr11:10779054 [GRCh38]
Chr11:10800601 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.741+17dup duplication not provided [RCV002118169] Chr11:10760332..10760333 [GRCh38]
Chr11:10781879..10781880 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.3453G>A (p.Ser1151=) single nucleotide variant not provided [RCV002204733] Chr11:10779036 [GRCh38]
Chr11:10800583 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.2373-19A>G single nucleotide variant not provided [RCV002099925] Chr11:10771526 [GRCh38]
Chr11:10793073 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3138C>T (p.Asp1046=) single nucleotide variant CTR9-related disorder [RCV003941331]|not provided [RCV002180821] Chr11:10778721 [GRCh38]
Chr11:10800268 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.819C>T (p.Asn273=) single nucleotide variant not provided [RCV002175729] Chr11:10762024 [GRCh38]
Chr11:10783571 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.45+12G>T single nucleotide variant not provided [RCV002179507] Chr11:10751469 [GRCh38]
Chr11:10773016 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1194+15del deletion not provided [RCV002217350] Chr11:10763887 [GRCh38]
Chr11:10785434 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1368T>C (p.Asn456=) single nucleotide variant not provided [RCV002180362] Chr11:10764391 [GRCh38]
Chr11:10785938 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1284+20T>A single nucleotide variant not provided [RCV002197685] Chr11:10764221 [GRCh38]
Chr11:10785768 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2983-18A>C single nucleotide variant not provided [RCV002200073] Chr11:10775503 [GRCh38]
Chr11:10797050 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2727+17G>C single nucleotide variant not provided [RCV002100280] Chr11:10773290 [GRCh38]
Chr11:10794837 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3095+13C>T single nucleotide variant not provided [RCV002102286] Chr11:10775646 [GRCh38]
Chr11:10797193 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2919T>C (p.Asp973=) single nucleotide variant not provided [RCV002120236] Chr11:10775240 [GRCh38]
Chr11:10796787 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.593-19G>A single nucleotide variant not provided [RCV002082073] Chr11:10760154 [GRCh38]
Chr11:10781701 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.693C>T (p.Cys231=) single nucleotide variant not provided [RCV002156768] Chr11:10760273 [GRCh38]
Chr11:10781820 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.385-13C>T single nucleotide variant not provided [RCV002155151] Chr11:10755665 [GRCh38]
Chr11:10777212 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.897A>G (p.Thr299=) single nucleotide variant not provided [RCV002178757] Chr11:10763478 [GRCh38]
Chr11:10785025 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2373-23_2373-19del deletion not provided [RCV003111063] Chr11:10771522..10771526 [GRCh38]
Chr11:10793069..10793073 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1454C>T (p.Ala485Val) single nucleotide variant not provided [RCV003113053] Chr11:10764588 [GRCh38]
Chr11:10786135 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.592+19_592+23del microsatellite not provided [RCV003116879] Chr11:10756850..10756854 [GRCh38]
Chr11:10778397..10778401 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2886-16G>A single nucleotide variant not provided [RCV003117044] Chr11:10775191 [GRCh38]
Chr11:10796738 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2983-17T>C single nucleotide variant not provided [RCV003111391] Chr11:10775504 [GRCh38]
Chr11:10797051 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1285-13C>G single nucleotide variant not provided [RCV003117170] Chr11:10764295 [GRCh38]
Chr11:10785842 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.850-16T>C single nucleotide variant not provided [RCV003117203] Chr11:10763415 [GRCh38]
Chr11:10784962 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.958-17T>A single nucleotide variant not provided [RCV003111160] Chr11:10763626 [GRCh38]
Chr11:10785173 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.616C>T (p.His206Tyr) single nucleotide variant not provided [RCV003123214] Chr11:10760196 [GRCh38]
Chr11:10781743 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.144+16G>C single nucleotide variant not provided [RCV003122781] Chr11:10752786 [GRCh38]
Chr11:10774333 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3096-11A>G single nucleotide variant not provided [RCV003122599] Chr11:10778668 [GRCh38]
Chr11:10800215 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3443G>A (p.Gly1148Glu) single nucleotide variant not provided [RCV003121629] Chr11:10779026 [GRCh38]
Chr11:10800573 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.849+10A>G single nucleotide variant not provided [RCV003120059] Chr11:10762064 [GRCh38]
Chr11:10783611 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2444+13T>C single nucleotide variant not provided [RCV003120073] Chr11:10771629 [GRCh38]
Chr11:10793176 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2109G>A (p.Met703Ile) single nucleotide variant not provided [RCV003149391] Chr11:10768491 [GRCh38]
Chr11:10790038 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NM_014633.5(CTR9):c.524A>G (p.Asn175Ser) single nucleotide variant not provided [RCV002265124] Chr11:10756770 [GRCh38]
Chr11:10778317 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.85G>A (p.Glu29Lys) single nucleotide variant Hypertelorism [RCV002286468] Chr11:10752711 [GRCh38]
Chr11:10774258 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2729G>A (p.Arg910His) single nucleotide variant Predisposition to Wilms tumor [RCV002292235] Chr11:10774013 [GRCh38]
Chr11:10795560 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2885+125C>T single nucleotide variant not provided [RCV002286069] Chr11:10774294 [GRCh38]
Chr11:10795841 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1760A>C (p.Lys587Thr) single nucleotide variant not provided [RCV002265128] Chr11:10767879 [GRCh38]
Chr11:10789426 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2794T>C (p.Ser932Pro) single nucleotide variant not provided [RCV002469744] Chr11:10774078 [GRCh38]
Chr11:10795625 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.4(CTR9):c.1286del deletion not provided [RCV002474221] Chr11:10764307 [GRCh38]
Chr11:10785854 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2632C>T (p.Arg878Trp) single nucleotide variant not provided [RCV002469527] Chr11:10773178 [GRCh38]
Chr11:10794725 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2182T>C (p.Phe728Leu) single nucleotide variant not provided [RCV002300110] Chr11:10770282 [GRCh38]
Chr11:10791829 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2711G>A (p.Gly904Asp) single nucleotide variant not provided [RCV002303011] Chr11:10773257 [GRCh38]
Chr11:10794804 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3060T>C (p.Ser1020=) single nucleotide variant not provided [RCV002731190] Chr11:10775598 [GRCh38]
Chr11:10797145 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2885+6G>A single nucleotide variant not provided [RCV002726526] Chr11:10774175 [GRCh38]
Chr11:10795722 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3492C>T (p.Gly1164=) single nucleotide variant not provided [RCV002615588] Chr11:10779075 [GRCh38]
Chr11:10800622 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.111A>T (p.Glu37Asp) single nucleotide variant not provided [RCV002461663] Chr11:10752737 [GRCh38]
Chr11:10774284 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2444+10C>A single nucleotide variant not provided [RCV003076919] Chr11:10771626 [GRCh38]
Chr11:10793173 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2109+8C>A single nucleotide variant not provided [RCV002614378] Chr11:10768499 [GRCh38]
Chr11:10790046 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3071A>G (p.Asp1024Gly) single nucleotide variant not provided [RCV002776229] Chr11:10775609 [GRCh38]
Chr11:10797156 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1935G>C (p.Lys645Asn) single nucleotide variant not provided [RCV002616552] Chr11:10768136 [GRCh38]
Chr11:10789683 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1597+20T>G single nucleotide variant not provided [RCV002686018] Chr11:10764751 [GRCh38]
Chr11:10786298 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2161C>T (p.Leu721Phe) single nucleotide variant not provided [RCV003014490] Chr11:10770261 [GRCh38]
Chr11:10791808 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2524C>T (p.Arg842Trp) single nucleotide variant not provided [RCV003097441] Chr11:10772599 [GRCh38]
Chr11:10794146 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.384+9A>G single nucleotide variant not provided [RCV003016523] Chr11:10755206 [GRCh38]
Chr11:10776753 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3113A>G (p.Asn1038Ser) single nucleotide variant not provided [RCV002972069] Chr11:10778696 [GRCh38]
Chr11:10800243 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3416A>G (p.Asp1139Gly) single nucleotide variant not provided [RCV002615157] Chr11:10778999 [GRCh38]
Chr11:10800546 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1194+1G>T single nucleotide variant not provided [RCV002511257] Chr11:10763880 [GRCh38]
Chr11:10785427 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1532G>A (p.Cys511Tyr) single nucleotide variant not provided [RCV003097639] Chr11:10764666 [GRCh38]
Chr11:10786213 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.909T>C (p.Ala303=) single nucleotide variant not provided [RCV002842352] Chr11:10763490 [GRCh38]
Chr11:10785037 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3217C>T (p.Pro1073Ser) single nucleotide variant not provided [RCV002979184] Chr11:10778800 [GRCh38]
Chr11:10800347 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.996C>T (p.Ala332=) single nucleotide variant not provided [RCV002621255] Chr11:10763681 [GRCh38]
Chr11:10785228 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1598-16T>C single nucleotide variant not provided [RCV002622863] Chr11:10766386 [GRCh38]
Chr11:10787933 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3370G>C (p.Ala1124Pro) single nucleotide variant not provided [RCV003020668] Chr11:10778953 [GRCh38]
Chr11:10800500 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2300C>G (p.Ser767Cys) single nucleotide variant not provided [RCV003037993] Chr11:10770560 [GRCh38]
Chr11:10792107 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3410G>C (p.Gly1137Ala) single nucleotide variant not provided [RCV002999976] Chr11:10778993 [GRCh38]
Chr11:10800540 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1597+4A>T single nucleotide variant not provided [RCV002866751] Chr11:10764735 [GRCh38]
Chr11:10786282 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2165A>C (p.Tyr722Ser) single nucleotide variant not provided [RCV002999998] Chr11:10770265 [GRCh38]
Chr11:10791812 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2109+11C>T single nucleotide variant not provided [RCV002690926] Chr11:10768502 [GRCh38]
Chr11:10790049 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1479C>T (p.Asn493=) single nucleotide variant not provided [RCV003100542] Chr11:10764613 [GRCh38]
Chr11:10786160 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1960+15T>A single nucleotide variant not provided [RCV002949176] Chr11:10768176 [GRCh38]
Chr11:10789723 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.30C>G (p.Leu10=) single nucleotide variant not provided [RCV002619135] Chr11:10751442 [GRCh38]
Chr11:10772989 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1827C>T (p.Asn609=) single nucleotide variant not provided [RCV003080760] Chr11:10767946 [GRCh38]
Chr11:10789493 [GRCh37]
Chr11:11p15.4		 benign
NM_014633.5(CTR9):c.3161C>T (p.Ser1054Leu) single nucleotide variant not provided [RCV003017854] Chr11:10778744 [GRCh38]
Chr11:10800291 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2719G>A (p.Gly907Ser) single nucleotide variant not provided [RCV003020956] Chr11:10773265 [GRCh38]
Chr11:10794812 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3084T>C (p.Ile1028=) single nucleotide variant not provided [RCV003000141] Chr11:10775622 [GRCh38]
Chr11:10797169 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1448C>G (p.Ala483Gly) single nucleotide variant not provided [RCV002510115] Chr11:10764582 [GRCh38]
Chr11:10786129 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.544G>A (p.Ala182Thr) single nucleotide variant Inborn genetic diseases [RCV002891338] Chr11:10756790 [GRCh38]
Chr11:10778337 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3323A>T (p.Gln1108Leu) single nucleotide variant not provided [RCV002575397] Chr11:10778906 [GRCh38]
Chr11:10800453 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.689A>C (p.Lys230Thr) single nucleotide variant Inborn genetic diseases [RCV002666167] Chr11:10760269 [GRCh38]
Chr11:10781816 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.144G>T (p.Ala48=) single nucleotide variant CTR9-related disorder [RCV003953897]|not provided [RCV003083136] Chr11:10752770 [GRCh38]
Chr11:10774317 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2408T>C (p.Met803Thr) single nucleotide variant not provided [RCV002643701] Chr11:10771580 [GRCh38]
Chr11:10793127 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1782G>A (p.Gln594=) single nucleotide variant not provided [RCV002625979] Chr11:10767901 [GRCh38]
Chr11:10789448 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3095+3A>G single nucleotide variant not provided [RCV003083040] Chr11:10775636 [GRCh38]
Chr11:10797183 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2327T>G (p.Leu776Arg) single nucleotide variant not provided [RCV003057195] Chr11:10770587 [GRCh38]
Chr11:10792134 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1280T>C (p.Ile427Thr) single nucleotide variant not provided [RCV002595847] Chr11:10764197 [GRCh38]
Chr11:10785744 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1448C>A (p.Ala483Glu) single nucleotide variant not provided [RCV002595681] Chr11:10764582 [GRCh38]
Chr11:10786129 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.957+10T>A single nucleotide variant not provided [RCV002740916] Chr11:10763548 [GRCh38]
Chr11:10785095 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2581-4A>G single nucleotide variant not provided [RCV003083021] Chr11:10773123 [GRCh38]
Chr11:10794670 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1569C>T (p.Ile523=) single nucleotide variant not provided [RCV002929198] Chr11:10764703 [GRCh38]
Chr11:10786250 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3365G>C (p.Arg1122Pro) single nucleotide variant not provided [RCV002914643] Chr11:10778948 [GRCh38]
Chr11:10800495 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3368C>T (p.Pro1123Leu) single nucleotide variant not provided [RCV002508457] Chr11:10778951 [GRCh38]
Chr11:10800498 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1413+11A>G single nucleotide variant not provided [RCV003023829] Chr11:10764447 [GRCh38]
Chr11:10785994 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2581-14A>G single nucleotide variant not provided [RCV002666537] Chr11:10773113 [GRCh38]
Chr11:10794660 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.190T>C (p.Leu64=) single nucleotide variant not provided [RCV002595372] Chr11:10755003 [GRCh38]
Chr11:10776550 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3205G>A (p.Glu1069Lys) single nucleotide variant not provided [RCV003011273] Chr11:10778788 [GRCh38]
Chr11:10800335 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2445-4C>T single nucleotide variant not provided [RCV002582149] Chr11:10772516 [GRCh38]
Chr11:10794063 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3441T>C (p.Ser1147=) single nucleotide variant not provided [RCV002581793] Chr11:10779024 [GRCh38]
Chr11:10800571 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2436A>G (p.Thr812=) single nucleotide variant not provided [RCV003090418] Chr11:10771608 [GRCh38]
Chr11:10793155 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2765A>G (p.Asn922Ser) single nucleotide variant not provided [RCV003088339] Chr11:10774049 [GRCh38]
Chr11:10795596 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3480C>T (p.Ala1160=) single nucleotide variant not provided [RCV002581526] Chr11:10779063 [GRCh38]
Chr11:10800610 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3239G>A (p.Arg1080Gln) single nucleotide variant not provided [RCV002581554] Chr11:10778822 [GRCh38]
Chr11:10800369 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.385-9A>C single nucleotide variant not provided [RCV002602450] Chr11:10755669 [GRCh38]
Chr11:10777216 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2536G>A (p.Glu846Lys) single nucleotide variant not provided [RCV002632643] Chr11:10772611 [GRCh38]
Chr11:10794158 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.45G>A (p.Glu15=) single nucleotide variant not provided [RCV003088586] Chr11:10751457 [GRCh38]
Chr11:10773004 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1628A>G (p.Asp543Gly) single nucleotide variant not provided [RCV002715350] Chr11:10766432 [GRCh38]
Chr11:10787979 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3306T>C (p.Ser1102=) single nucleotide variant not provided [RCV003088946] Chr11:10778889 [GRCh38]
Chr11:10800436 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1269A>G (p.Glu423=) single nucleotide variant not provided [RCV003046918] Chr11:10764186 [GRCh38]
Chr11:10785733 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1740A>G (p.Glu580=) single nucleotide variant not provided [RCV003045328] Chr11:10767859 [GRCh38]
Chr11:10789406 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2592T>A (p.Arg864=) single nucleotide variant not provided [RCV002770280] Chr11:10773138 [GRCh38]
Chr11:10794685 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.630A>G (p.Lys210=) single nucleotide variant not provided [RCV002933961] Chr11:10760210 [GRCh38]
Chr11:10781757 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.614G>T (p.Gly205Val) single nucleotide variant not provided [RCV002627430] Chr11:10760194 [GRCh38]
Chr11:10781741 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3057C>T (p.Asp1019=) single nucleotide variant not provided [RCV002876975] Chr11:10775595 [GRCh38]
Chr11:10797142 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2728C>T (p.Arg910Cys) single nucleotide variant not provided [RCV003087112] Chr11:10774012 [GRCh38]
Chr11:10795559 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2038A>G (p.Ile680Val) single nucleotide variant not provided [RCV003064051] Chr11:10768420 [GRCh38]
Chr11:10789967 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2900A>G (p.Glu967Gly) single nucleotide variant not provided [RCV003090555] Chr11:10775221 [GRCh38]
Chr11:10796768 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3509A>T (p.Asp1170Val) single nucleotide variant not provided [RCV003088483] Chr11:10779092 [GRCh38]
Chr11:10800639 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3288C>T (p.Pro1096=) single nucleotide variant not provided [RCV002746123] Chr11:10778871 [GRCh38]
Chr11:10800418 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.687C>T (p.Ser229=) single nucleotide variant not provided [RCV002647915] Chr11:10760267 [GRCh38]
Chr11:10781814 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2189G>A (p.Cys730Tyr) single nucleotide variant not provided [RCV003048837] Chr11:10770289 [GRCh38]
Chr11:10791836 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2100C>A (p.Ala700=) single nucleotide variant not provided [RCV003088667] Chr11:10768482 [GRCh38]
Chr11:10790029 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2973G>C (p.Lys991Asn) single nucleotide variant Inborn genetic diseases [RCV002896746] Chr11:10775294 [GRCh38]
Chr11:10796841 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2572A>C (p.Lys858Gln) single nucleotide variant not provided [RCV002602522] Chr11:10772647 [GRCh38]
Chr11:10794194 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.799A>G (p.Ser267Gly) single nucleotide variant not provided [RCV003059991] Chr11:10762004 [GRCh38]
Chr11:10783551 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3421G>A (p.Glu1141Lys) single nucleotide variant Inborn genetic diseases [RCV002897952] Chr11:10779004 [GRCh38]
Chr11:10800551 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3132C>T (p.Asp1044=) single nucleotide variant not provided [RCV002579018] Chr11:10778715 [GRCh38]
Chr11:10800262 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1500A>G (p.Ser500=) single nucleotide variant not provided [RCV002653647] Chr11:10764634 [GRCh38]
Chr11:10786181 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1590T>C (p.Tyr530=) single nucleotide variant not provided [RCV002582480] Chr11:10764724 [GRCh38]
Chr11:10786271 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.849+4G>A single nucleotide variant not provided [RCV002607492] Chr11:10762058 [GRCh38]
Chr11:10783605 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1989T>C (p.Phe663=) single nucleotide variant not provided [RCV002603349] Chr11:10768371 [GRCh38]
Chr11:10789918 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1344T>C (p.Asp448=) single nucleotide variant not provided [RCV003068755] Chr11:10764367 [GRCh38]
Chr11:10785914 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3493T>A (p.Ser1165Thr) single nucleotide variant Inborn genetic diseases [RCV003274263]|not provided [RCV002606190] Chr11:10779076 [GRCh38]
Chr11:10800623 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2036A>G (p.Asp679Gly) single nucleotide variant not provided [RCV002587272] Chr11:10768418 [GRCh38]
Chr11:10789965 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2226+14A>G single nucleotide variant not provided [RCV002726117] Chr11:10770340 [GRCh38]
Chr11:10791887 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2728-8G>A single nucleotide variant not provided [RCV002588617] Chr11:10774004 [GRCh38]
Chr11:10795551 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3360C>T (p.Asp1120=) single nucleotide variant not provided [RCV002611232] Chr11:10778943 [GRCh38]
Chr11:10800490 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3153A>T (p.Lys1051Asn) single nucleotide variant not provided [RCV002610206] Chr11:10778736 [GRCh38]
Chr11:10800283 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.480A>G (p.Pro160=) single nucleotide variant not provided [RCV002612591] Chr11:10755773 [GRCh38]
Chr11:10777320 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2380A>G (p.Ser794Gly) single nucleotide variant Predisposition to Wilms tumor [RCV003154581] Chr11:10771552 [GRCh38]
Chr11:10793099 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1907A>G (p.Tyr636Cys) single nucleotide variant not provided [RCV003154344] Chr11:10768108 [GRCh38]
Chr11:10789655 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2924C>T (p.Thr975Ile) single nucleotide variant Inborn genetic diseases [RCV003218811] Chr11:10775245 [GRCh38]
Chr11:10796792 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2045A>G (p.Asp682Gly) single nucleotide variant not provided [RCV003221641] Chr11:10768427 [GRCh38]
Chr11:10789974 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.83A>G (p.Asp28Gly) single nucleotide variant Inborn genetic diseases [RCV003193818] Chr11:10752709 [GRCh38]
Chr11:10774256 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.85G>C (p.Glu29Gln) single nucleotide variant not provided [RCV003323243] Chr11:10752711 [GRCh38]
Chr11:10774258 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_014633.5(CTR9):c.110A>G (p.Glu37Gly) single nucleotide variant not provided [RCV003319912] Chr11:10752736 [GRCh38]
Chr11:10774283 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2851G>A (p.Glu951Lys) single nucleotide variant not provided [RCV003325637] Chr11:10774135 [GRCh38]
Chr11:10795682 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1865G>A (p.Arg622Gln) single nucleotide variant Inborn genetic diseases [RCV003342697] Chr11:10767984 [GRCh38]
Chr11:10789531 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.802A>G (p.Asn268Asp) single nucleotide variant not provided [RCV003570641] Chr11:10762007 [GRCh38]
Chr11:10783554 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1108G>A (p.Ala370Thr) single nucleotide variant not provided [RCV003875079] Chr11:10763793 [GRCh38]
Chr11:10785340 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1500A>T (p.Ser500=) single nucleotide variant not provided [RCV003397924] Chr11:10764634 [GRCh38]
Chr11:10786181 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.13T>C (p.Ser5Pro) single nucleotide variant not provided [RCV003441249] Chr11:10751425 [GRCh38]
Chr11:10772972 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2307G>A (p.Leu769=) single nucleotide variant not provided [RCV003397925] Chr11:10770567 [GRCh38]
Chr11:10792114 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3369A>G (p.Pro1123=) single nucleotide variant not provided [RCV003397926] Chr11:10778952 [GRCh38]
Chr11:10800499 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.741+6T>G single nucleotide variant CTR9-related disorder [RCV003929029]|not provided [RCV003397923] Chr11:10760327 [GRCh38]
Chr11:10781874 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2291T>C (p.Leu764Ser) single nucleotide variant not provided [RCV003441193] Chr11:10770551 [GRCh38]
Chr11:10792098 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.686C>G (p.Ser229Cys) single nucleotide variant not provided [RCV003441577] Chr11:10760266 [GRCh38]
Chr11:10781813 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.286C>A (p.Gln96Lys) single nucleotide variant not provided [RCV003547016] Chr11:10755099 [GRCh38]
Chr11:10776646 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3230G>T (p.Arg1077Leu) single nucleotide variant not provided [RCV003695534] Chr11:10778813 [GRCh38]
Chr11:10800360 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1061G>A (p.Arg354Gln) single nucleotide variant not provided [RCV003739930] Chr11:10763746 [GRCh38]
Chr11:10785293 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2240C>T (p.Ala747Val) single nucleotide variant not provided [RCV003716058] Chr11:10770500 [GRCh38]
Chr11:10792047 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1214C>T (p.Thr405Ile) single nucleotide variant not provided [RCV003696734] Chr11:10764131 [GRCh38]
Chr11:10785678 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.592+18T>G single nucleotide variant not provided [RCV003713572] Chr11:10756856 [GRCh38]
Chr11:10778403 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1413+18T>G single nucleotide variant not provided [RCV003691572] Chr11:10764454 [GRCh38]
Chr11:10786001 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.997A>G (p.Thr333Ala) single nucleotide variant not provided [RCV003687904] Chr11:10763682 [GRCh38]
Chr11:10785229 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1960+20A>G single nucleotide variant not provided [RCV003695354] Chr11:10768181 [GRCh38]
Chr11:10789728 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2110-6C>T single nucleotide variant not provided [RCV003878439] Chr11:10770204 [GRCh38]
Chr11:10791751 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2091C>T (p.Tyr697=) single nucleotide variant not provided [RCV003691097] Chr11:10768473 [GRCh38]
Chr11:10790020 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2690C>T (p.Ala897Val) single nucleotide variant not provided [RCV003660750] Chr11:10773236 [GRCh38]
Chr11:10794783 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.190T>G (p.Leu64Val) single nucleotide variant not provided [RCV003689954] Chr11:10755003 [GRCh38]
Chr11:10776550 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.298G>A (p.Glu100Lys) single nucleotide variant not provided [RCV003693626] Chr11:10755111 [GRCh38]
Chr11:10776658 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.625G>T (p.Val209Leu) single nucleotide variant not provided [RCV003830304] Chr11:10760205 [GRCh38]
Chr11:10781752 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.957+16C>T single nucleotide variant not provided [RCV003686742] Chr11:10763554 [GRCh38]
Chr11:10785101 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.503-8C>G single nucleotide variant not provided [RCV003739589] Chr11:10756741 [GRCh38]
Chr11:10778288 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1059T>C (p.Tyr353=) single nucleotide variant not provided [RCV003828049] Chr11:10763744 [GRCh38]
Chr11:10785291 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3324G>A (p.Gln1108=) single nucleotide variant not provided [RCV003879402] Chr11:10778907 [GRCh38]
Chr11:10800454 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1194+18A>G single nucleotide variant not provided [RCV003714180] Chr11:10763897 [GRCh38]
Chr11:10785444 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.849+20A>G single nucleotide variant not provided [RCV003825470] Chr11:10762074 [GRCh38]
Chr11:10783621 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3403G>A (p.Glu1135Lys) single nucleotide variant not provided [RCV003716974] Chr11:10778986 [GRCh38]
Chr11:10800533 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1474T>C (p.Tyr492His) single nucleotide variant not provided [RCV003699923] Chr11:10764608 [GRCh38]
Chr11:10786155 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1864C>G (p.Arg622Gly) single nucleotide variant not provided [RCV003718042] Chr11:10767983 [GRCh38]
Chr11:10789530 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3095G>A (p.Gly1032Glu) single nucleotide variant not provided [RCV003699983] Chr11:10775633 [GRCh38]
Chr11:10797180 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1787C>G (p.Ser596Cys) single nucleotide variant not provided [RCV003699195] Chr11:10767906 [GRCh38]
Chr11:10789453 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2515C>T (p.Arg839Trp) single nucleotide variant not provided [RCV003717313] Chr11:10772590 [GRCh38]
Chr11:10794137 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1728G>A (p.Leu576=) single nucleotide variant not provided [RCV003833497] Chr11:10767847 [GRCh38]
Chr11:10789394 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.264A>G (p.Thr88=) single nucleotide variant not provided [RCV003699471] Chr11:10755077 [GRCh38]
Chr11:10776624 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2226+16G>A single nucleotide variant not provided [RCV003850151] Chr11:10770342 [GRCh38]
Chr11:10791889 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3352G>A (p.Glu1118Lys) single nucleotide variant not provided [RCV003664920] Chr11:10778935 [GRCh38]
Chr11:10800482 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2489G>A (p.Arg830Gln) single nucleotide variant not provided [RCV003716989] Chr11:10772564 [GRCh38]
Chr11:10794111 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3522G>A (p.Ter1174=) single nucleotide variant not provided [RCV003724096] Chr11:10779105 [GRCh38]
Chr11:10800652 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3135G>A (p.Glu1045=) single nucleotide variant not provided [RCV003815986] Chr11:10778718 [GRCh38]
Chr11:10800265 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2068A>G (p.Ile690Val) single nucleotide variant not provided [RCV003725752] Chr11:10768450 [GRCh38]
Chr11:10789997 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2100C>T (p.Ala700=) single nucleotide variant not provided [RCV003724466] Chr11:10768482 [GRCh38]
Chr11:10790029 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2533C>A (p.Gln845Lys) single nucleotide variant not provided [RCV003702839] Chr11:10772608 [GRCh38]
Chr11:10794155 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3380G>A (p.Ser1127Asn) single nucleotide variant not provided [RCV003717721] Chr11:10778963 [GRCh38]
Chr11:10800510 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1488C>T (p.Ser496=) single nucleotide variant not provided [RCV003724647] Chr11:10764622 [GRCh38]
Chr11:10786169 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1530G>A (p.Met510Ile) single nucleotide variant not provided [RCV003726063] Chr11:10764664 [GRCh38]
Chr11:10786211 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.342C>T (p.Thr114=) single nucleotide variant not provided [RCV003811900] Chr11:10755155 [GRCh38]
Chr11:10776702 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2900AAG[1] (p.Glu968del) microsatellite not provided [RCV003726047] Chr11:10775219..10775221 [GRCh38]
Chr11:10796766..10796768 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.279T>C (p.Tyr93=) single nucleotide variant not provided [RCV003725032] Chr11:10755092 [GRCh38]
Chr11:10776639 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3442G>C (p.Gly1148Arg) single nucleotide variant not provided [RCV003725034] Chr11:10779025 [GRCh38]
Chr11:10800572 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.45+9C>A single nucleotide variant not provided [RCV003724244] Chr11:10751466 [GRCh38]
Chr11:10773013 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.385-7T>C single nucleotide variant not provided [RCV003724124] Chr11:10755671 [GRCh38]
Chr11:10777218 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2957C>T (p.Pro986Leu) single nucleotide variant not provided [RCV003701151] Chr11:10775278 [GRCh38]
Chr11:10796825 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1828G>A (p.Val610Met) single nucleotide variant not provided [RCV003835244] Chr11:10767947 [GRCh38]
Chr11:10789494 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.74C>T (p.Pro25Leu) single nucleotide variant not provided [RCV003838256] Chr11:10752700 [GRCh38]
Chr11:10774247 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3401C>T (p.Ser1134Leu) single nucleotide variant not provided [RCV003724278] Chr11:10778984 [GRCh38]
Chr11:10800531 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2897G>C (p.Gly966Ala) single nucleotide variant not provided [RCV003724464] Chr11:10775218 [GRCh38]
Chr11:10796765 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.592+2T>C single nucleotide variant not provided [RCV003558932] Chr11:10756840 [GRCh38]
Chr11:10778387 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1285G>A (p.Gly429Ser) single nucleotide variant not provided [RCV003849444] Chr11:10764308 [GRCh38]
Chr11:10785855 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.547C>G (p.Leu183Val) single nucleotide variant not provided [RCV003723879] Chr11:10756793 [GRCh38]
Chr11:10778340 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3385G>C (p.Glu1129Gln) single nucleotide variant not provided [RCV003813879] Chr11:10778968 [GRCh38]
Chr11:10800515 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.636C>T (p.Asn212=) single nucleotide variant not provided [RCV003554186] Chr11:10760216 [GRCh38]
Chr11:10781763 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.554A>T (p.Tyr185Phe) single nucleotide variant not provided [RCV003675370] Chr11:10756800 [GRCh38]
Chr11:10778347 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.144+4A>G single nucleotide variant not provided [RCV003733546] Chr11:10752774 [GRCh38]
Chr11:10774321 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3095+4G>A single nucleotide variant CTR9-related disorder [RCV003901111]|not provided [RCV003552130] Chr11:10775637 [GRCh38]
Chr11:10797184 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_014633.5(CTR9):c.2897G>A (p.Gly966Glu) single nucleotide variant not provided [RCV003731272] Chr11:10775218 [GRCh38]
Chr11:10796765 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.285A>T (p.Gln95His) single nucleotide variant not provided [RCV003731925] Chr11:10755098 [GRCh38]
Chr11:10776645 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1960+18G>C single nucleotide variant not provided [RCV003733729] Chr11:10768179 [GRCh38]
Chr11:10789726 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2951G>A (p.Arg984Gln) single nucleotide variant not provided [RCV003732819] Chr11:10775272 [GRCh38]
Chr11:10796819 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2727+15C>G single nucleotide variant not provided [RCV003733739] Chr11:10773288 [GRCh38]
Chr11:10794835 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1079C>T (p.Ala360Val) single nucleotide variant not provided [RCV003676424] Chr11:10763764 [GRCh38]
Chr11:10785311 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2109+14_2109+15insC insertion not provided [RCV003864168] Chr11:10768505..10768506 [GRCh38]
Chr11:10790052..10790053 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2109+17C>T single nucleotide variant not provided [RCV003864169] Chr11:10768508 [GRCh38]
Chr11:10790055 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3384C>T (p.Ala1128=) single nucleotide variant not provided [RCV003728282] Chr11:10778967 [GRCh38]
Chr11:10800514 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2983-6C>G single nucleotide variant not provided [RCV003729650] Chr11:10775515 [GRCh38]
Chr11:10797062 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2373-12C>T single nucleotide variant not provided [RCV003733902] Chr11:10771533 [GRCh38]
Chr11:10793080 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2186A>G (p.Lys729Arg) single nucleotide variant not provided [RCV003734056] Chr11:10770286 [GRCh38]
Chr11:10791833 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.339C>T (p.Ala113=) single nucleotide variant not provided [RCV003675217] Chr11:10755152 [GRCh38]
Chr11:10776699 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1686+9T>C single nucleotide variant not provided [RCV003819323] Chr11:10766499 [GRCh38]
Chr11:10788046 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1961-12T>G single nucleotide variant not provided [RCV003677681] Chr11:10768331 [GRCh38]
Chr11:10789878 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1854C>T (p.Pro618=) single nucleotide variant not provided [RCV003732830] Chr11:10767973 [GRCh38]
Chr11:10789520 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3476A>C (p.Glu1159Ala) single nucleotide variant Inborn genetic diseases [RCV004373994]|not provided [RCV003722101] Chr11:10779059 [GRCh38]
Chr11:10800606 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1718A>T (p.Asn573Ile) single nucleotide variant not provided [RCV003565060] Chr11:10767837 [GRCh38]
Chr11:10789384 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3446A>G (p.Asn1149Ser) single nucleotide variant not provided [RCV003731625] Chr11:10779029 [GRCh38]
Chr11:10800576 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1818C>A (p.Ala606=) single nucleotide variant not provided [RCV003708329] Chr11:10767937 [GRCh38]
Chr11:10789484 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1285-12A>G single nucleotide variant not provided [RCV003733693] Chr11:10764296 [GRCh38]
Chr11:10785843 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2373-11G>A single nucleotide variant not provided [RCV003733705] Chr11:10771534 [GRCh38]
Chr11:10793081 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3133G>A (p.Glu1045Lys) single nucleotide variant not provided [RCV003719795] Chr11:10778716 [GRCh38]
Chr11:10800263 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1960+19T>C single nucleotide variant not provided [RCV003733860] Chr11:10768180 [GRCh38]
Chr11:10789727 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2425C>G (p.Leu809Val) single nucleotide variant not provided [RCV003719640] Chr11:10771597 [GRCh38]
Chr11:10793144 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2952A>G (p.Arg984=) single nucleotide variant not provided [RCV003857559] Chr11:10775273 [GRCh38]
Chr11:10796820 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.675G>A (p.Leu225=) single nucleotide variant not provided [RCV003567618] Chr11:10760255 [GRCh38]
Chr11:10781802 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2474A>C (p.Gln825Pro) single nucleotide variant not provided [RCV003683791] Chr11:10772549 [GRCh38]
Chr11:10794096 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.762_763inv (p.Val255Ile) inversion not provided [RCV003870399] Chr11:10761967..10761968 [GRCh38]
Chr11:10783514..10783515 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3275G>A (p.Arg1092Lys) single nucleotide variant not provided [RCV003870405] Chr11:10778858 [GRCh38]
Chr11:10800405 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2488C>T (p.Arg830Trp) single nucleotide variant not provided [RCV003734625] Chr11:10772563 [GRCh38]
Chr11:10794110 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2690C>G (p.Ala897Gly) single nucleotide variant not provided [RCV003719991] Chr11:10773236 [GRCh38]
Chr11:10794783 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2581-3T>C single nucleotide variant not provided [RCV003720001] Chr11:10773124 [GRCh38]
Chr11:10794671 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.503-6T>C single nucleotide variant not provided [RCV003729393] Chr11:10756743 [GRCh38]
Chr11:10778290 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3385G>A (p.Glu1129Lys) single nucleotide variant not provided [RCV003720068] Chr11:10778968 [GRCh38]
Chr11:10800515 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1875A>G (p.Glu625=) single nucleotide variant not provided [RCV003722517] Chr11:10768076 [GRCh38]
Chr11:10789623 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3139G>C (p.Glu1047Gln) single nucleotide variant not provided [RCV003719847] Chr11:10778722 [GRCh38]
Chr11:10800269 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.521T>A (p.Phe174Tyr) single nucleotide variant not provided [RCV003685738] Chr11:10756767 [GRCh38]
Chr11:10778314 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.251C>T (p.Thr84Ile) single nucleotide variant not provided [RCV003720111] Chr11:10755064 [GRCh38]
Chr11:10776611 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2260A>T (p.Met754Leu) single nucleotide variant not provided [RCV003686044] Chr11:10770520 [GRCh38]
Chr11:10792067 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2187G>A (p.Lys729=) single nucleotide variant not provided [RCV003869990] Chr11:10770287 [GRCh38]
Chr11:10791834 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2494C>T (p.Arg832Cys) single nucleotide variant not provided [RCV003847683] Chr11:10772569 [GRCh38]
Chr11:10794116 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.741+15A>G single nucleotide variant not provided [RCV003733892] Chr11:10760336 [GRCh38]
Chr11:10781883 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3123T>C (p.Ser1041=) single nucleotide variant not provided [RCV003722163] Chr11:10778706 [GRCh38]
Chr11:10800253 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2109+4A>G single nucleotide variant not provided [RCV003719650] Chr11:10768495 [GRCh38]
Chr11:10790042 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.234T>C (p.His78=) single nucleotide variant not provided [RCV003542107] Chr11:10755047 [GRCh38]
Chr11:10776594 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2445-12G>A single nucleotide variant not provided [RCV003733654] Chr11:10772508 [GRCh38]
Chr11:10794055 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.384+19T>A single nucleotide variant not provided [RCV003733677] Chr11:10755216 [GRCh38]
Chr11:10776763 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.1413+15A>G single nucleotide variant not provided [RCV003733711] Chr11:10764451 [GRCh38]
Chr11:10785998 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.3499C>T (p.His1167Tyr) single nucleotide variant not provided [RCV003853492] Chr11:10779082 [GRCh38]
Chr11:10800629 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.652C>T (p.Arg218Cys) single nucleotide variant not provided [RCV003732457] Chr11:10760232 [GRCh38]
Chr11:10781779 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1227C>T (p.Pro409=) single nucleotide variant not provided [RCV003819649] Chr11:10764144 [GRCh38]
Chr11:10785691 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.18C>T (p.Ile6=) single nucleotide variant not provided [RCV003730841] Chr11:10751430 [GRCh38]
Chr11:10772977 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2126G>A (p.Arg709Gln) single nucleotide variant not provided [RCV003556449] Chr11:10770226 [GRCh38]
Chr11:10791773 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3227C>A (p.Pro1076Gln) single nucleotide variant not provided [RCV003734223] Chr11:10778810 [GRCh38]
Chr11:10800357 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.1154A>G (p.Tyr385Cys) single nucleotide variant Inborn genetic diseases [RCV004374998] Chr11:10763839 [GRCh38]
Chr11:10785386 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2204A>G (p.Glu735Gly) single nucleotide variant Inborn genetic diseases [RCV004374999] Chr11:10770304 [GRCh38]
Chr11:10791851 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2759T>A (p.Phe920Tyr) single nucleotide variant Inborn genetic diseases [RCV004375002] Chr11:10774043 [GRCh38]
Chr11:10795590 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.280G>A (p.Val94Ile) single nucleotide variant Inborn genetic diseases [RCV004375003] Chr11:10755093 [GRCh38]
Chr11:10776640 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.491C>T (p.Pro164Leu) single nucleotide variant Inborn genetic diseases [RCV004375006] Chr11:10755784 [GRCh38]
Chr11:10777331 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.494C>G (p.Ala165Gly) single nucleotide variant Inborn genetic diseases [RCV004375007] Chr11:10755787 [GRCh38]
Chr11:10777334 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.496C>T (p.Leu166Phe) single nucleotide variant Inborn genetic diseases [RCV004375008] Chr11:10755789 [GRCh38]
Chr11:10777336 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2692A>C (p.Thr898Pro) single nucleotide variant Inborn genetic diseases [RCV004375001] Chr11:10773238 [GRCh38]
Chr11:10794785 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2109+7_2109+8del deletion CTR9-related disorder [RCV003927094] Chr11:10768498..10768499 [GRCh38]
Chr11:10790045..10790046 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2549A>C (p.Glu850Ala) single nucleotide variant Inborn genetic diseases [RCV004375000] Chr11:10772624 [GRCh38]
Chr11:10794171 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.44A>G (p.Glu15Gly) single nucleotide variant Inborn genetic diseases [RCV004375005] Chr11:10751456 [GRCh38]
Chr11:10773003 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_014633.5(CTR9):c.56T>A (p.Leu19His) single nucleotide variant Inborn genetic diseases [RCV004375009] Chr11:10752682 [GRCh38]
Chr11:10774229 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_014633.5(CTR9):c.666C>G (p.Ser222Arg) single nucleotide variant Inborn genetic diseases [RCV004615949] Chr11:10760246 [GRCh38]
Chr11:10781793 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.2899G>A (p.Glu967Lys) single nucleotide variant not provided [RCV004590973] Chr11:10775220 [GRCh38]
Chr11:10796767 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.3159C>G (p.Ala1053=) single nucleotide variant not provided [RCV004575310] Chr11:10778742 [GRCh38]
Chr11:10800289 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014633.5(CTR9):c.2588A>G (p.Lys863Arg) single nucleotide variant Inborn genetic diseases [RCV004615950] Chr11:10773134 [GRCh38]
Chr11:10794681 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014633.5(CTR9):c.86A>G (p.Glu29Gly) single nucleotide variant not provided [RCV004696840] Chr11:10752712 [GRCh38]
Chr11:10774259 [GRCh37]
Chr11:11p15.4		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:811
Count of miRNA genes:520
Interacting mature miRNAs:567
Transcripts:ENST00000361367, ENST00000524523, ENST00000526874, ENST00000529355, ENST00000529898
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1576345LVC1_HLeft ventricular contractility QTL 1 (human)3.93Left ventricular contractility11797076733970767Human
2289313BW388_HBody weight QTL 388 (human)1.570.00356Body fat amountabdominal11443467130434671Human
407147815GWAS796791_HS-warfarin to R-warfarin ratio measurement QTL GWAS796791 (human)0.000009S-warfarin to R-warfarin ratio measurement111075150210751503Human
1559107SCL32_HSerum cholesterol level QTL 32 (human)3.27Lipid levelLDL cholesterol11289243028892430Human
407148796GWAS797772_Hsleep measurement QTL GWAS797772 (human)4e-08sleep measurement111075829910758300Human
407174216GWAS823192_Hovarian carcinoma QTL GWAS823192 (human)0.000005ovarian carcinoma111077873210778733Human
1559113SCL31_HSerum cholesterol level QTL 31 (human)3.72Lipid levelLDL cholesterol11289243028892430Human
407248121GWAS897097_Hautism spectrum disorder QTL GWAS897097 (human)0.000005autism spectrum disorder111077043610770437Human

Markers in Region
G62052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,801,120 - 10,801,264UniSTSGRCh37
Build 361110,757,696 - 10,757,840RGDNCBI36
Celera1110,922,724 - 10,922,868RGD
Cytogenetic Map11p15.3UniSTS
HuRef1110,474,061 - 10,474,205UniSTS
SHGC-31621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,800,663 - 10,800,864UniSTSGRCh37
Build 361110,757,239 - 10,757,440RGDNCBI36
Celera1110,922,267 - 10,922,468RGD
Cytogenetic Map11p15.3UniSTS
HuRef1110,473,604 - 10,473,805UniSTS
Stanford-G3 RH Map11345.0UniSTS
GeneMap99-GB4 RH Map1148.69UniSTS
Whitehead-RH Map1148.7UniSTS
NCBI RH Map1157.1UniSTS
GeneMap99-G3 RH Map11345.0UniSTS
SH2BP1_8969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,800,646 - 10,801,405UniSTSGRCh37
Build 361110,757,222 - 10,757,981RGDNCBI36
Celera1110,922,250 - 10,923,009RGD
HuRef1110,473,587 - 10,474,346UniSTS
RH25374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,772,875 - 10,774,256UniSTSGRCh37
Build 361110,729,451 - 10,730,832RGDNCBI36
Celera1110,894,451 - 10,895,832RGD
Cytogenetic Map11p15.3UniSTS
HuRef1110,445,677 - 10,447,058UniSTS
GeneMap99-GB4 RH Map1150.28UniSTS
NCBI RH Map1157.3UniSTS
CTR9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,791,831 - 10,792,169UniSTSGRCh37
Celera1110,913,435 - 10,913,773UniSTS
HuRef1110,464,779 - 10,465,117UniSTS
RH93322  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p15.3UniSTS
GeneMap99-GB4 RH Map1148.79UniSTS


Sequence


Ensembl Acc Id: ENST00000361367   ⟹   ENSP00000355013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1110,751,246 - 10,779,746 (+)Ensembl
Ensembl Acc Id: ENST00000524523   ⟹   ENSP00000431458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1110,751,452 - 10,763,734 (+)Ensembl
Ensembl Acc Id: ENST00000526874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1110,766,334 - 10,768,476 (+)Ensembl
Ensembl Acc Id: ENST00000529355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1110,767,051 - 10,768,459 (+)Ensembl
Ensembl Acc Id: ENST00000529898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1110,772,507 - 10,774,309 (+)Ensembl
Ensembl Acc Id: ENST00000532365   ⟹   ENSP00000493551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1110,775,521 - 10,801,625 (+)Ensembl
Ensembl Acc Id: ENST00000715696   ⟹   ENSP00000520504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1110,751,018 - 10,779,742 (+)Ensembl
RefSeq Acc Id: NM_001346279   ⟹   NP_001333208
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,751,246 - 10,779,746 (+)NCBI
T2T-CHM13v2.01110,836,160 - 10,864,657 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014633   ⟹   NP_055448
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,751,246 - 10,779,746 (+)NCBI
GRCh371110,772,749 - 10,801,295 (+)NCBI
Build 361110,729,387 - 10,757,866 (+)NCBI Archive
Celera1110,894,387 - 10,922,894 (+)RGD
HuRef1110,445,613 - 10,474,231 (+)ENTREZGENE
CHM1_11110,771,457 - 10,800,221 (+)NCBI
T2T-CHM13v2.01110,836,160 - 10,864,657 (+)NCBI
Sequence:
RefSeq Acc Id: NP_055448   ⟸   NM_014633
- Peptide Label: isoform 1
- UniProtKB: D3DQV8 (UniProtKB/Swiss-Prot),   Q15015 (UniProtKB/Swiss-Prot),   Q6PD62 (UniProtKB/Swiss-Prot),   A8K6X9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333208   ⟸   NM_001346279
- Peptide Label: isoform 2
- UniProtKB: A8K6X9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000355013   ⟸   ENST00000361367
Ensembl Acc Id: ENSP00000493551   ⟸   ENST00000532365
Ensembl Acc Id: ENSP00000431458   ⟸   ENST00000524523
Ensembl Acc Id: ENSP00000520504   ⟸   ENST00000715696

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6PD62-F1-model_v2 AlphaFold Q6PD62 1-1173 view protein structure

Promoters
RGD ID:6788654
Promoter ID:HG_KWN:12330
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000361367
Position:
Human AssemblyChrPosition (strand)Source
Build 361110,729,086 - 10,729,586 (+)MPROMDB
RGD ID:7219657
Promoter ID:EPDNEW_H15574
Type:initiation region
Name:CTR9_1
Description:CTR9 homolog, Paf1/RNA polymerase II complex component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15575  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,751,019 - 10,751,079EPDNEW
RGD ID:7219659
Promoter ID:EPDNEW_H15575
Type:initiation region
Name:CTR9_2
Description:CTR9 homolog, Paf1/RNA polymerase II complex component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15574  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,751,278 - 10,751,338EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16850 AgrOrtholog
COSMIC CTR9 COSMIC
Ensembl Genes ENSG00000198730 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361367 ENTREZGENE
  ENST00000361367.7 UniProtKB/Swiss-Prot
  ENST00000524523.1 UniProtKB/TrEMBL
  ENST00000532365.2 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198730 GTEx
HGNC ID HGNC:16850 ENTREZGENE
Human Proteome Map CTR9 Human Proteome Map
InterPro Ctr9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9646 UniProtKB/Swiss-Prot
NCBI Gene 9646 ENTREZGENE
OMIM 609366 OMIM
PANTHER PTHR14027 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA POLYMERASE-ASSOCIATED PROTEIN CTR9 HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TPR_10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134896774 PharmGKB
PROSITE TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot
SMART TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP HCP-like UniProtKB/Swiss-Prot
  SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y3S3_HUMAN UniProtKB/TrEMBL
  A8K6X9 ENTREZGENE, UniProtKB/TrEMBL
  CTR9_HUMAN UniProtKB/Swiss-Prot
  D3DQV8 ENTREZGENE
  H0YCE8_HUMAN UniProtKB/TrEMBL
  L8E8J1_HUMAN UniProtKB/TrEMBL
  Q15015 ENTREZGENE
  Q6PD62 ENTREZGENE
UniProt Secondary D3DQV8 UniProtKB/Swiss-Prot
  Q15015 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-07 CTR9  CTR9 homolog, Paf1/RNA polymerase II complex component  CTR9  CTR9, Paf1/RNA polymerase II complex component  Symbol and/or name change 5135510 APPROVED
2013-07-09 CTR9  CTR9, Paf1/RNA polymerase II complex component  CTR9  Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED